Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50720253T>A | CA515258701 | SHANK3 | c.2021T>A (p.Val674Glu) n.2605T>A c.1073T>A (p.Val358Glu) c.563T>A (p.Val188Glu) c.*1019T>A (n.*1019T>A) c.2417T>A (p.Val806Glu) c.2399T>A (p.Val800Glu) | |
22 | g.50720253T>C | CA325577990 | SHANK3 | c.2021T>C (p.Val674Ala) n.2605T>C c.1073T>C (p.Val358Ala) c.563T>C (p.Val188Ala) c.*1019T>C (n.*1019T>C) c.2417T>C (p.Val806Ala) c.2399T>C (p.Val800Ala) | dbSNP |
22 | g.50720253T>G | CA515258702 | SHANK3 | c.2021T>G (p.Val674Gly) n.2605T>G c.1073T>G (p.Val358Gly) c.563T>G (p.Val188Gly) c.*1019T>G (n.*1019T>G) c.2417T>G (p.Val806Gly) c.2399T>G (p.Val800Gly) | |
22 | g.50720253T= | CA2411007520 | SHANK3 | c.2021T= (p.Val674=) n.2605T= c.1073T= (p.Val358=) c.563T= (p.Val188=) c.*1019T= (n.*1019T=) c.2417T= (p.Val806=) c.2399T= (p.Val800=) | |
22 | g.50720254G>A | CA515258704 | SHANK3 | c.2022G>A (p.Val674=) n.2606G>A c.1074G>A (p.Val358=) c.564G>A (p.Val188=) c.*1020G>A (n.*1020G>A) c.2418G>A (p.Val806=) c.2400G>A (p.Val800=) | dbSNP gnomAD v4 |
22 | g.50720254G>C | CA515258705 | SHANK3 | c.2022G>C (p.Val674=) n.2606G>C c.1074G>C (p.Val358=) c.564G>C (p.Val188=) c.*1020G>C (n.*1020G>C) c.2418G>C (p.Val806=) c.2400G>C (p.Val800=) | |
22 | g.50720254G= | CA2411007521 | SHANK3 | c.2022G= (p.Val674=) n.2606G= c.1074G= (p.Val358=) c.564G= (p.Val188=) c.*1020G= (n.*1020G=) c.2418G= (p.Val806=) c.2400G= (p.Val800=) | |
22 | g.50720254G>T | CA515258706 | SHANK3 | c.2022G>T (p.Val674=) n.2606G>T c.1074G>T (p.Val358=) c.564G>T (p.Val188=) c.*1020G>T (n.*1020G>T) c.2418G>T (p.Val806=) c.2400G>T (p.Val800=) | gnomAD v4 |
22 | g.50720255C>A | CA515258707 | SHANK3 | c.2023C>A (p.Arg675Ser) n.2607C>A c.1075C>A (p.Arg359Ser) c.565C>A (p.Arg189Ser) c.*1021C>A (n.*1021C>A) c.2419C>A (p.Arg807Ser) c.2401C>A (p.Arg801Ser) | gnomAD v4 |
22 | g.50720255C>G | CA515258708 | SHANK3 | c.2023C>G (p.Arg675Gly) n.2607C>G c.1075C>G (p.Arg359Gly) c.565C>G (p.Arg189Gly) c.*1021C>G (n.*1021C>G) c.2419C>G (p.Arg807Gly) c.2401C>G (p.Arg801Gly) | |
22 | g.50720255C>T | CA515258709 | SHANK3 | c.2023C>T (p.Arg675Cys) n.2607C>T c.1075C>T (p.Arg359Cys) c.565C>T (p.Arg189Cys) c.*1021C>T (n.*1021C>T) c.2419C>T (p.Arg807Cys) c.2401C>T (p.Arg801Cys) | gnomAD v4 |
22 | g.50720256G>A | CA515258712 | SHANK3 | c.2024G>A (p.Arg675His) n.2608G>A c.1076G>A (p.Arg359His) c.566G>A (p.Arg189His) c.*1022G>A (n.*1022G>A) c.2420G>A (p.Arg807His) c.2402G>A (p.Arg801His) | gnomAD v4 |
22 | g.50720256G>C | CA515258711 | SHANK3 | c.2024G>C (p.Arg675Pro) n.2608G>C c.1076G>C (p.Arg359Pro) c.566G>C (p.Arg189Pro) c.*1022G>C (n.*1022G>C) c.2420G>C (p.Arg807Pro) c.2402G>C (p.Arg801Pro) | ClinVar dbSNP |
22 | g.50720256G= | CA2411007522 | SHANK3 | c.2024G= (p.Arg675=) n.2608G= c.1076G= (p.Arg359=) c.566G= (p.Arg189=) c.*1022G= (n.*1022G=) c.2420G= (p.Arg807=) c.2402G= (p.Arg801=) | |
22 | g.50720256G>T | CA515258710 | SHANK3 | c.2024G>T (p.Arg675Leu) n.2608G>T c.1076G>T (p.Arg359Leu) c.566G>T (p.Arg189Leu) c.*1022G>T (n.*1022G>T) c.2420G>T (p.Arg807Leu) c.2402G>T (p.Arg801Leu) | gnomAD v4 |
22 | g.50720257C>A | CA515258713 | SHANK3 | c.2025C>A (p.Arg675=) n.2609C>A c.1077C>A (p.Arg359=) c.567C>A (p.Arg189=) c.*1023C>A (n.*1023C>A) c.2421C>A (p.Arg807=) c.2403C>A (p.Arg801=) | gnomAD v4 |
22 | g.50720257C= | CA2411007523 | SHANK3 | c.2025C= (p.Arg675=) n.2609C= c.1077C= (p.Arg359=) c.567C= (p.Arg189=) c.*1023C= (n.*1023C=) c.2421C= (p.Arg807=) c.2403C= (p.Arg801=) | |
22 | g.50720257C>G | CA515258714 | SHANK3 | c.2025C>G (p.Arg675=) n.2609C>G c.1077C>G (p.Arg359=) c.567C>G (p.Arg189=) c.*1023C>G (n.*1023C>G) c.2421C>G (p.Arg807=) c.2403C>G (p.Arg801=) | |
22 | g.50720257C>T | CA515258715 | SHANK3 | c.2025C>T (p.Arg675=) n.2609C>T c.1077C>T (p.Arg359=) c.567C>T (p.Arg189=) c.*1023C>T (n.*1023C>T) c.2421C>T (p.Arg807=) c.2403C>T (p.Arg801=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720258G>A | CA515258716 | SHANK3 | c.2026G>A (p.Glu676Lys) n.2610G>A c.1078G>A (p.Glu360Lys) c.568G>A (p.Glu190Lys) c.*1024G>A (n.*1024G>A) c.2422G>A (p.Glu808Lys) c.2404G>A (p.Glu802Lys) | dbSNP |
22 | g.50720258G>C | CA515258717 | SHANK3 | c.2026G>C (p.Glu676Gln) n.2610G>C c.1078G>C (p.Glu360Gln) c.568G>C (p.Glu190Gln) c.*1024G>C (n.*1024G>C) c.2422G>C (p.Glu808Gln) c.2404G>C (p.Glu802Gln) | |
22 | g.50720258G>T | CA515258718 | SHANK3 | c.2026G>T (p.Glu676Ter) n.2610G>T c.1078G>T (p.Glu360Ter) c.568G>T (p.Glu190Ter) c.*1024G>T (n.*1024G>T) c.2422G>T (p.Glu808Ter) c.2404G>T (p.Glu802Ter) | gnomAD v4 |
22 | g.50720258_50720268del | CA2657582724 | SHANK3 | c.2026_2036del (p.Glu676HisfsTer?) n.2610_2620del c.1078_1088del (p.Glu360HisfsTer?) c.568_578del (p.Glu190HisfsTer?) c.*1024_*1034del (n.*1024_*1034del) c.2422_2432del (p.Glu808HisfsTer?) c.2404_2414del (p.Glu802HisfsTer?) | gnomAD v4 |
22 | g.50720259A>C | CA515258721 | SHANK3 | c.2027A>C (p.Glu676Ala) n.2611A>C c.1079A>C (p.Glu360Ala) c.569A>C (p.Glu190Ala) c.*1025A>C (n.*1025A>C) c.2423A>C (p.Glu808Ala) c.2405A>C (p.Glu802Ala) | |
22 | g.50720259A>G | CA515258724 | SHANK3 | c.2027A>G (p.Glu676Gly) n.2611A>G c.1079A>G (p.Glu360Gly) c.569A>G (p.Glu190Gly) c.*1025A>G (n.*1025A>G) c.2423A>G (p.Glu808Gly) c.2405A>G (p.Glu802Gly) | gnomAD v4 |
22 | g.50720259A>T | CA515258726 | SHANK3 | c.2027A>T (p.Glu676Val) n.2611A>T c.1079A>T (p.Glu360Val) c.569A>T (p.Glu190Val) c.*1025A>T (n.*1025A>T) c.2423A>T (p.Glu808Val) c.2405A>T (p.Glu802Val) | |
22 | g.50720260G>A | CA515258728 | SHANK3 | c.2028G>A (p.Glu676=) n.2612G>A c.1080G>A (p.Glu360=) c.570G>A (p.Glu190=) c.*1026G>A (n.*1026G>A) c.2424G>A (p.Glu808=) c.2406G>A (p.Glu802=) | gnomAD v4 |
22 | g.50720260G>C | CA515258729 | SHANK3 | c.2028G>C (p.Glu676Asp) n.2612G>C c.1080G>C (p.Glu360Asp) c.570G>C (p.Glu190Asp) c.*1026G>C (n.*1026G>C) c.2424G>C (p.Glu808Asp) c.2406G>C (p.Glu802Asp) | ClinVar gnomAD v4 |
22 | g.50720260G>T | CA515258730 | SHANK3 | c.2028G>T (p.Glu676Asp) n.2612G>T c.1080G>T (p.Glu360Asp) c.570G>T (p.Glu190Asp) c.*1026G>T (n.*1026G>T) c.2424G>T (p.Glu808Asp) c.2406G>T (p.Glu802Asp) | gnomAD v4 |
22 | g.50720262del | CA2657582733 | SHANK3 | c.2030del (p.Gly677ValfsTer?) n.2614del c.1082del (p.Gly361ValfsTer?) c.572del (p.Gly191ValfsTer?) c.*1028del (n.*1028del) c.2426del (p.Gly809ValfsTer?) c.2408del (p.Gly803ValfsTer?) | gnomAD v4 |
22 | g.50720261G>A | CA515258734 | SHANK3 | c.2029G>A (p.Gly677Ser) n.2613G>A c.1081G>A (p.Gly361Ser) c.571G>A (p.Gly191Ser) c.*1027G>A (n.*1027G>A) c.2425G>A (p.Gly809Ser) c.2407G>A (p.Gly803Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720261G>C | CA515258731 | SHANK3 | c.2029G>C (p.Gly677Arg) n.2613G>C c.1081G>C (p.Gly361Arg) c.571G>C (p.Gly191Arg) c.*1027G>C (n.*1027G>C) c.2425G>C (p.Gly809Arg) c.2407G>C (p.Gly803Arg) | |
22 | g.50720261G= | CA2411007524 | SHANK3 | c.2029G= (p.Gly677=) n.2613G= c.1081G= (p.Gly361=) c.571G= (p.Gly191=) c.*1027G= (n.*1027G=) c.2425G= (p.Gly809=) c.2407G= (p.Gly803=) | |
22 | g.50720261G>T | CA515258732 | SHANK3 | c.2029G>T (p.Gly677Cys) n.2613G>T c.1081G>T (p.Gly361Cys) c.571G>T (p.Gly191Cys) c.*1027G>T (n.*1027G>T) c.2425G>T (p.Gly809Cys) c.2407G>T (p.Gly803Cys) | dbSNP gnomAD v4 |
22 | g.50720262G>A | CA515258735 | SHANK3 | c.2030G>A (p.Gly677Asp) n.2614G>A c.1082G>A (p.Gly361Asp) c.572G>A (p.Gly191Asp) c.*1028G>A (n.*1028G>A) c.2426G>A (p.Gly809Asp) c.2408G>A (p.Gly803Asp) | gnomAD v4 |
22 | g.50720262G>C | CA515258736 | SHANK3 | c.2030G>C (p.Gly677Ala) n.2614G>C c.1082G>C (p.Gly361Ala) c.572G>C (p.Gly191Ala) c.*1028G>C (n.*1028G>C) c.2426G>C (p.Gly809Ala) c.2408G>C (p.Gly803Ala) | |
22 | g.50720262G>T | CA515258737 | SHANK3 | c.2030G>T (p.Gly677Val) n.2614G>T c.1082G>T (p.Gly361Val) c.572G>T (p.Gly191Val) c.*1028G>T (n.*1028G>T) c.2426G>T (p.Gly809Val) c.2408G>T (p.Gly803Val) | |
22 | g.50720263T>A | CA515258738 | SHANK3 | c.2031T>A (p.Gly677=) n.2615T>A c.1083T>A (p.Gly361=) c.573T>A (p.Gly191=) c.*1029T>A (n.*1029T>A) c.2427T>A (p.Gly809=) c.2409T>A (p.Gly803=) | gnomAD v4 |
22 | g.50720263T>C | CA515258739 | SHANK3 | c.2031T>C (p.Gly677=) n.2615T>C c.1083T>C (p.Gly361=) c.573T>C (p.Gly191=) c.*1029T>C (n.*1029T>C) c.2427T>C (p.Gly809=) c.2409T>C (p.Gly803=) | gnomAD v4 |
22 | g.50720263T>G | CA515258740 | SHANK3 | c.2031T>G (p.Gly677=) n.2615T>G c.1083T>G (p.Gly361=) c.573T>G (p.Gly191=) c.*1029T>G (n.*1029T>G) c.2427T>G (p.Gly809=) c.2409T>G (p.Gly803=) | |
22 | g.50720264C>A | CA515258741 | SHANK3 | c.2032C>A (p.Arg678Ser) n.2616C>A c.1084C>A (p.Arg362Ser) c.574C>A (p.Arg192Ser) c.*1030C>A (n.*1030C>A) c.2428C>A (p.Arg810Ser) c.2410C>A (p.Arg804Ser) | gnomAD v4 |
22 | g.50720264C= | CA2411007525 | SHANK3 | c.2032C= (p.Arg678=) n.2616C= c.1084C= (p.Arg362=) c.574C= (p.Arg192=) c.*1030C= (n.*1030C=) c.2428C= (p.Arg810=) c.2410C= (p.Arg804=) | |
22 | g.50720264C>G | CA325577994 | SHANK3 | c.2032C>G (p.Arg678Gly) n.2616C>G c.1084C>G (p.Arg362Gly) c.574C>G (p.Arg192Gly) c.*1030C>G (n.*1030C>G) c.2428C>G (p.Arg810Gly) c.2410C>G (p.Arg804Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720264C>T | CA515258742 | SHANK3 | c.2032C>T (p.Arg678Cys) n.2616C>T c.1084C>T (p.Arg362Cys) c.574C>T (p.Arg192Cys) c.*1030C>T (n.*1030C>T) c.2428C>T (p.Arg810Cys) c.2410C>T (p.Arg804Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720265G>A | CA515258743 | SHANK3 | c.2033G>A (p.Arg678His) n.2617G>A c.1085G>A (p.Arg362His) c.575G>A (p.Arg192His) c.*1031G>A (n.*1031G>A) c.2429G>A (p.Arg810His) c.2411G>A (p.Arg804His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720265G>C | CA515258744 | SHANK3 | c.2033G>C (p.Arg678Pro) n.2617G>C c.1085G>C (p.Arg362Pro) c.575G>C (p.Arg192Pro) c.*1031G>C (n.*1031G>C) c.2429G>C (p.Arg810Pro) c.2411G>C (p.Arg804Pro) | |
22 | g.50720265G= | CA2411007526 | SHANK3 | c.2033G= (p.Arg678=) n.2617G= c.1085G= (p.Arg362=) c.575G= (p.Arg192=) c.*1031G= (n.*1031G=) c.2429G= (p.Arg810=) c.2411G= (p.Arg804=) | |
22 | g.50720265G>T | CA515258745 | SHANK3 | c.2033G>T (p.Arg678Leu) n.2617G>T c.1085G>T (p.Arg362Leu) c.575G>T (p.Arg192Leu) c.*1031G>T (n.*1031G>T) c.2429G>T (p.Arg810Leu) c.2411G>T (p.Arg804Leu) | gnomAD v4 |
22 | g.50720266C>A | CA515258747 | SHANK3 | c.2034C>A (p.Arg678=) n.2618C>A c.1086C>A (p.Arg362=) c.576C>A (p.Arg192=) c.*1032C>A (n.*1032C>A) c.2430C>A (p.Arg810=) c.2412C>A (p.Arg804=) | gnomAD v4 |
22 | g.50720266C= | CA2411007527 | SHANK3 | c.2034C= (p.Arg678=) n.2618C= c.1086C= (p.Arg362=) c.576C= (p.Arg192=) c.*1032C= (n.*1032C=) c.2430C= (p.Arg810=) c.2412C= (p.Arg804=) | |
22 | g.50720266C>G | CA515258749 | SHANK3 | c.2034C>G (p.Arg678=) n.2618C>G c.1086C>G (p.Arg362=) c.576C>G (p.Arg192=) c.*1032C>G (n.*1032C>G) c.2430C>G (p.Arg810=) c.2412C>G (p.Arg804=) | gnomAD v4 |
22 | g.50720266C>T | CA515258746 | SHANK3 | c.2034C>T (p.Arg678=) n.2618C>T c.1086C>T (p.Arg362=) c.576C>T (p.Arg192=) c.*1032C>T (n.*1032C>T) c.2430C>T (p.Arg810=) c.2412C>T (p.Arg804=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720267G>A | CA515258750 | SHANK3 | c.2035G>A (p.Gly679Ser) n.2619G>A c.1087G>A (p.Gly363Ser) c.577G>A (p.Gly193Ser) c.*1033G>A (n.*1033G>A) c.2431G>A (p.Gly811Ser) c.2413G>A (p.Gly805Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720267G>C | CA515258752 | SHANK3 | c.2035G>C (p.Gly679Arg) n.2619G>C c.1087G>C (p.Gly363Arg) c.577G>C (p.Gly193Arg) c.*1033G>C (n.*1033G>C) c.2431G>C (p.Gly811Arg) c.2413G>C (p.Gly805Arg) | dbSNP |
22 | g.50720267G= | CA2411007528 | SHANK3 | c.2035G= (p.Gly679=) n.2619G= c.1087G= (p.Gly363=) c.577G= (p.Gly193=) c.*1033G= (n.*1033G=) c.2431G= (p.Gly811=) c.2413G= (p.Gly805=) | |
22 | g.50720267G>T | CA515258753 | SHANK3 | c.2035G>T (p.Gly679Cys) n.2619G>T c.1087G>T (p.Gly363Cys) c.577G>T (p.Gly193Cys) c.*1033G>T (n.*1033G>T) c.2431G>T (p.Gly811Cys) c.2413G>T (p.Gly805Cys) | gnomAD v4 |
22 | g.50720268G>A | CA515258754 | SHANK3 | c.2036G>A (p.Gly679Asp) n.2620G>A c.1088G>A (p.Gly363Asp) c.578G>A (p.Gly193Asp) c.*1034G>A (n.*1034G>A) c.2432G>A (p.Gly811Asp) c.2414G>A (p.Gly805Asp) | gnomAD v4 |
22 | g.50720268G>C | CA515258755 | SHANK3 | c.2036G>C (p.Gly679Ala) n.2620G>C c.1088G>C (p.Gly363Ala) c.578G>C (p.Gly193Ala) c.*1034G>C (n.*1034G>C) c.2432G>C (p.Gly811Ala) c.2414G>C (p.Gly805Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720268G= | CA2411007529 | SHANK3 | c.2036G= (p.Gly679=) n.2620G= c.1088G= (p.Gly363=) c.578G= (p.Gly193=) c.*1034G= (n.*1034G=) c.2432G= (p.Gly811=) c.2414G= (p.Gly805=) | |
22 | g.50720268G>T | CA515258756 | SHANK3 | c.2036G>T (p.Gly679Val) n.2620G>T c.1088G>T (p.Gly363Val) c.578G>T (p.Gly193Val) c.*1034G>T (n.*1034G>T) c.2432G>T (p.Gly811Val) c.2414G>T (p.Gly805Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720269C>A | CA515258759 | SHANK3 | c.2037C>A (p.Gly679=) n.2621C>A c.1089C>A (p.Gly363=) c.579C>A (p.Gly193=) c.*1035C>A (n.*1035C>A) c.2433C>A (p.Gly811=) c.2415C>A (p.Gly805=) | dbSNP gnomAD v4 |
22 | g.50720269C>G | CA515258757 | SHANK3 | c.2037C>G (p.Gly679=) n.2621C>G c.1089C>G (p.Gly363=) c.579C>G (p.Gly193=) c.*1035C>G (n.*1035C>G) c.2433C>G (p.Gly811=) c.2415C>G (p.Gly805=) | |
22 | g.50720269C>T | CA515258758 | SHANK3 | c.2037C>T (p.Gly679=) n.2621C>T c.1089C>T (p.Gly363=) c.579C>T (p.Gly193=) c.*1035C>T (n.*1035C>T) c.2433C>T (p.Gly811=) c.2415C>T (p.Gly805=) | gnomAD v4 |
22 | g.50720270A>C | CA515258760 | SHANK3 | c.2038A>C (p.Ile680Leu) n.2622A>C c.1090A>C (p.Ile364Leu) c.580A>C (p.Ile194Leu) c.*1036A>C (n.*1036A>C) c.2434A>C (p.Ile812Leu) c.2416A>C (p.Ile806Leu) | gnomAD v4 |
22 | g.50720270A>G | CA515258761 | SHANK3 | c.2038A>G (p.Ile680Val) n.2622A>G c.1090A>G (p.Ile364Val) c.580A>G (p.Ile194Val) c.*1036A>G (n.*1036A>G) c.2434A>G (p.Ile812Val) c.2416A>G (p.Ile806Val) | gnomAD v4 |
22 | g.50720270A>T | CA515258762 | SHANK3 | c.2038A>T (p.Ile680Phe) n.2622A>T c.1090A>T (p.Ile364Phe) c.580A>T (p.Ile194Phe) c.*1036A>T (n.*1036A>T) c.2434A>T (p.Ile812Phe) c.2416A>T (p.Ile806Phe) | |
22 | g.50720271T>A | CA515258763 | SHANK3 | c.2039T>A (p.Ile680Asn) n.2623T>A c.1091T>A (p.Ile364Asn) c.581T>A (p.Ile194Asn) c.*1037T>A (n.*1037T>A) c.2435T>A (p.Ile812Asn) c.2417T>A (p.Ile806Asn) | |
22 | g.50720271T>C | CA325578001 | SHANK3 | c.2039T>C (p.Ile680Thr) n.2623T>C c.1091T>C (p.Ile364Thr) c.581T>C (p.Ile194Thr) c.*1037T>C (n.*1037T>C) c.2435T>C (p.Ile812Thr) c.2417T>C (p.Ile806Thr) | dbSNP gnomAD v4 |
22 | g.50720271T>G | CA515258765 | SHANK3 | c.2039T>G (p.Ile680Ser) n.2623T>G c.1091T>G (p.Ile364Ser) c.581T>G (p.Ile194Ser) c.*1037T>G (n.*1037T>G) c.2435T>G (p.Ile812Ser) c.2417T>G (p.Ile806Ser) | |
22 | g.50720271T= | CA2411007530 | SHANK3 | c.2039T= (p.Ile680=) n.2623T= c.1091T= (p.Ile364=) c.581T= (p.Ile194=) c.*1037T= (n.*1037T=) c.2435T= (p.Ile812=) c.2417T= (p.Ile806=) | |
22 | g.50720271_50720272insG | CA2738228115 | SHANK3 | c.2039_2040insG (p.Ile680MetfsTer?) n.2623_2624insG c.1091_1092insG (p.Ile364MetfsTer?) c.581_582insG (p.Ile194MetfsTer?) c.*1037_*1038insG (n.*1037_*1038insG) c.2435_2436insG (p.Ile812MetfsTer?) c.2417_2418insG (p.Ile806MetfsTer?) | dbSNP |
22 | g.50720271_50720272insAC | CA2738228131 | SHANK3 | c.2039_2040insAC (p.Pro682ArgfsTer?) n.2623_2624insAC c.1091_1092insAC (p.Pro366ArgfsTer?) c.581_582insAC (p.Pro196ArgfsTer?) c.*1037_*1038insAC (n.*1037_*1038insAC) c.2435_2436insAC (p.Pro814ArgfsTer?) c.2417_2418insAC (p.Pro808ArgfsTer?) | dbSNP |
22 | g.50720271_50720272insGC | CA2497030043 | SHANK3 | c.2039_2040insGC (p.Ile680MetfsTer?) n.2623_2624insGC c.1091_1092insGC (p.Ile364MetfsTer?) c.581_582insGC (p.Ile194MetfsTer?) c.*1037_*1038insGC (n.*1037_*1038insGC) c.2435_2436insGC (p.Ile812MetfsTer?) c.2417_2418insGC (p.Ile806MetfsTer?) | dbSNP |
22 | g.50720271_50720272insGCC | CA2499306964 | SHANK3 | c.2039_2040insGCC (p.Ile680delinsMetPro) n.2623_2624insGCC c.1091_1092insGCC (p.Ile364delinsMetPro) c.581_582insGCC (p.Ile194delinsMetPro) c.*1037_*1038insGCC (n.*1037_*1038insGCC) c.2435_2436insGCC (p.Ile812delinsMetPro) c.2417_2418insGCC (p.Ile806delinsMetPro) | dbSNP |
22 | g.50720271_50720272insGCCC | CA2738228082 | SHANK3 | c.2039_2040insGCCC (p.Ile680MetfsTer?) n.2623_2624insGCCC c.1091_1092insGCCC (p.Ile364MetfsTer?) c.581_582insGCCC (p.Ile194MetfsTer?) c.*1037_*1038insGCCC (n.*1037_*1038insGCCC) c.2435_2436insGCCC (p.Ile812MetfsTer?) c.2417_2418insGCCC (p.Ile806MetfsTer?) | dbSNP |
22 | g.50720271_50720272insGCCCC | CA923726295 | SHANK3 | c.2039_2040insGCCCC (p.Ile680MetfsTer?) n.2623_2624insGCCCC c.1091_1092insGCCCC (p.Ile364MetfsTer?) c.581_582insGCCCC (p.Ile194MetfsTer?) c.*1037_*1038insGCCCC (n.*1037_*1038insGCCCC) c.2435_2436insGCCCC (p.Ile812MetfsTer?) c.2417_2418insGCCCC (p.Ile806MetfsTer?) | |
22 | g.50720271_50720272insGCCCCC | CA2573320248 | SHANK3 | c.2039_2040insGCCCCC (p.Ile680delinsMetProPro) n.2623_2624insGCCCCC c.1091_1092insGCCCCC (p.Ile364delinsMetProPro) c.581_582insGCCCCC (p.Ile194delinsMetProPro) c.*1037_*1038insGCCCCC (n.*1037_*1038insGCCCCC) c.2435_2436insGCCCCC (p.Ile812delinsMetProPro) c.2417_2418insGCCCCC (p.Ile806delinsMetProPro) | |
22 | g.50720272C>A | CA515258766 | SHANK3 | c.2040C>A (p.Ile680=) n.2624C>A c.1092C>A (p.Ile364=) c.582C>A (p.Ile194=) c.*1038C>A (n.*1038C>A) c.2436C>A (p.Ile812=) c.2418C>A (p.Ile806=) | dbSNP gnomAD v4 |
22 | g.50720272C= | CA2411007531 | SHANK3 | c.2040C= (p.Ile680=) n.2624C= c.1092C= (p.Ile364=) c.582C= (p.Ile194=) c.*1038C= (n.*1038C=) c.2436C= (p.Ile812=) c.2418C= (p.Ile806=) | |
22 | g.50720272C>G | CA515258768 | SHANK3 | c.2040C>G (p.Ile680Met) n.2624C>G c.1092C>G (p.Ile364Met) c.582C>G (p.Ile194Met) c.*1038C>G (n.*1038C>G) c.2436C>G (p.Ile812Met) c.2418C>G (p.Ile806Met) | ClinVar dbSNP gnomAD v4 |
22 | g.50720272C>T | CA515258767 | SHANK3 | c.2040C>T (p.Ile680=) n.2624C>T c.1092C>T (p.Ile364=) c.582C>T (p.Ile194=) c.*1038C>T (n.*1038C>T) c.2436C>T (p.Ile812=) c.2418C>T (p.Ile806=) | gnomAD v4 |
22 | g.50720272_50720274del | CA2573105958 | SHANK3 | c.2040_2042del (p.Ile680_Pro681delinsMet) n.2624_2626del c.1092_1094del (p.Ile364_Pro365delinsMet) c.582_584del (p.Ile194_Pro195delinsMet) c.*1038_*1040del (n.*1038_*1040del) c.2436_2438del (p.Ile812_Pro813delinsMet) c.2418_2420del (p.Ile806_Pro807delinsMet) | dbSNP |
22 | g.50720273_50720274dup | CA2819315339 | SHANK3 | c.2041_2042dup (p.Pro682ArgfsTer?) n.2625_2626dup c.1093_1094dup (p.Pro366ArgfsTer?) c.583_584dup (p.Pro196ArgfsTer?) c.*1039_*1040dup (n.*1039_*1040dup) c.2437_2438dup (p.Pro814ArgfsTer?) c.2419_2420dup (p.Pro808ArgfsTer?) | |
22 | g.50720274del | CA2657582770 | SHANK3 | c.2042del (p.Pro681ArgfsTer?) n.2626del c.1094del (p.Pro365ArgfsTer?) c.584del (p.Pro195ArgfsTer?) c.*1040del (n.*1040del) c.2438del (p.Pro813ArgfsTer?) c.2420del (p.Pro807ArgfsTer?) | gnomAD v4 |
22 | g.50720273C>A | CA515258769 | SHANK3 | c.2041C>A (p.Pro681Thr) n.2625C>A c.1093C>A (p.Pro365Thr) c.583C>A (p.Pro195Thr) c.*1039C>A (n.*1039C>A) c.2437C>A (p.Pro813Thr) c.2419C>A (p.Pro807Thr) | gnomAD v4 |
22 | g.50720273C>G | CA515258770 | SHANK3 | c.2041C>G (p.Pro681Ala) n.2625C>G c.1093C>G (p.Pro365Ala) c.583C>G (p.Pro195Ala) c.*1039C>G (n.*1039C>G) c.2437C>G (p.Pro813Ala) c.2419C>G (p.Pro807Ala) | gnomAD v4 |
22 | g.50720273C>T | CA515258771 | SHANK3 | c.2041C>T (p.Pro681Ser) n.2625C>T c.1093C>T (p.Pro365Ser) c.583C>T (p.Pro195Ser) c.*1039C>T (n.*1039C>T) c.2437C>T (p.Pro813Ser) c.2419C>T (p.Pro807Ser) | gnomAD v4 |
22 | g.50720278_50720298del | CA2657582776 | SHANK3 | c.2046_2066del (p.Pro683_Pro689del) n.2630_2650del c.1098_1118del (p.Pro367_Pro373del) c.588_608del (p.Pro197_Pro203del) c.*1044_*1064del (n.*1044_*1064del) c.2442_2462del (p.Pro815_Pro821del) c.2424_2444del (p.Pro809_Pro815del) | gnomAD v4 |
22 | g.50720282_50720341del | CA2657582783 | SHANK3 | c.2050_2109del (p.Pro684_Pro703del) n.2634_2693del c.1102_1161del (p.Pro368_Pro387del) c.592_651del (p.Pro198_Pro217del) c.*1048_*1107del (n.*1048_*1107del) c.2446_2505del (p.Pro816_Pro835del) c.2428_2487del (p.Pro810_Pro829del) | gnomAD v4 |
22 | g.50720285_50720365del | CA2657582781 | SHANK3 | c.2053_2133del (p.Gln685_Pro711del) n.2637_2717del c.1105_1185del (p.Gln369_Pro395del) c.595_675del (p.Gln199_Pro225del) c.*1051_*1131del (n.*1051_*1131del) c.2449_2529del (p.Gln817_Pro843del) c.2431_2511del (p.Gln811_Pro837del) | gnomAD v4 |
22 | g.50720274C>A | CA515258772 | SHANK3 | c.2042C>A (p.Pro681Gln) n.2626C>A c.1094C>A (p.Pro365Gln) c.584C>A (p.Pro195Gln) c.*1040C>A (n.*1040C>A) c.2438C>A (p.Pro813Gln) c.2420C>A (p.Pro807Gln) | gnomAD v4 |
22 | g.50720274C>G | CA515258773 | SHANK3 | c.2042C>G (p.Pro681Arg) n.2626C>G c.1094C>G (p.Pro365Arg) c.584C>G (p.Pro195Arg) c.*1040C>G (n.*1040C>G) c.2438C>G (p.Pro813Arg) c.2420C>G (p.Pro807Arg) | gnomAD v4 |
22 | g.50720274C>T | CA515258774 | SHANK3 | c.2042C>T (p.Pro681Leu) n.2626C>T c.1094C>T (p.Pro365Leu) c.584C>T (p.Pro195Leu) c.*1040C>T (n.*1040C>T) c.2438C>T (p.Pro813Leu) c.2420C>T (p.Pro807Leu) | gnomAD v4 |
22 | g.50720275del | CA2657582786 | SHANK3 | c.2043del (p.Pro683ArgfsTer?) n.2627del c.1095del (p.Pro367ArgfsTer?) c.585del (p.Pro197ArgfsTer?) c.*1041del (n.*1041del) c.2439del (p.Pro815ArgfsTer?) c.2421del (p.Pro809ArgfsTer?) | dbSNP gnomAD v4 |
22 | g.50720275G>A | CA515258775 | SHANK3 | c.2043G>A (p.Pro681=) n.2627G>A c.1095G>A (p.Pro365=) c.585G>A (p.Pro195=) c.*1041G>A (n.*1041G>A) c.2439G>A (p.Pro813=) c.2421G>A (p.Pro807=) | gnomAD v4 |
22 | g.50720275G>C | CA515258776 | SHANK3 | c.2043G>C (p.Pro681=) n.2627G>C c.1095G>C (p.Pro365=) c.585G>C (p.Pro195=) c.*1041G>C (n.*1041G>C) c.2439G>C (p.Pro813=) c.2421G>C (p.Pro807=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720275G= | CA2411007532 | SHANK3 | c.2043G= (p.Pro681=) n.2627G= c.1095G= (p.Pro365=) c.585G= (p.Pro195=) c.*1041G= (n.*1041G=) c.2439G= (p.Pro813=) c.2421G= (p.Pro807=) | |
22 | g.50720275G>T | CA515258777 | SHANK3 | c.2043G>T (p.Pro681=) n.2627G>T c.1095G>T (p.Pro365=) c.585G>T (p.Pro195=) c.*1041G>T (n.*1041G>T) c.2439G>T (p.Pro813=) c.2421G>T (p.Pro807=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720276C>A | CA515258778 | SHANK3 | c.2044C>A (p.Pro682Thr) n.2628C>A c.1096C>A (p.Pro366Thr) c.586C>A (p.Pro196Thr) c.*1042C>A (n.*1042C>A) c.2440C>A (p.Pro814Thr) c.2422C>A (p.Pro808Thr) | gnomAD v4 |
22 | g.50720276C>G | CA515258779 | SHANK3 | c.2044C>G (p.Pro682Ala) n.2628C>G c.1096C>G (p.Pro366Ala) c.586C>G (p.Pro196Ala) c.*1042C>G (n.*1042C>G) c.2440C>G (p.Pro814Ala) c.2422C>G (p.Pro808Ala) | gnomAD v4 |
22 | g.50720276C>T | CA515258780 | SHANK3 | c.2044C>T (p.Pro682Ser) n.2628C>T c.1096C>T (p.Pro366Ser) c.586C>T (p.Pro196Ser) c.*1042C>T (n.*1042C>T) c.2440C>T (p.Pro814Ser) c.2422C>T (p.Pro808Ser) | gnomAD v4 |
22 | g.50720280dup | CA2832576917 | SHANK3 | c.2048dup (p.Pro684AlafsTer?) n.2632dup c.1100dup (p.Pro368AlafsTer?) c.590dup (p.Pro198AlafsTer?) c.*1046dup (n.*1046dup) c.2444dup (p.Pro816AlafsTer?) c.2426dup (p.Pro810AlafsTer?) | |
22 | g.50720280del | CA2657582790 | SHANK3 | c.2048del (p.Pro683ArgfsTer?) n.2632del c.1100del (p.Pro367ArgfsTer?) c.590del (p.Pro197ArgfsTer?) c.*1046del (n.*1046del) c.2444del (p.Pro815ArgfsTer?) c.2426del (p.Pro809ArgfsTer?) | gnomAD v4 |
22 | g.50720284_50720307del | CA2657582789 | SHANK3 | c.2052_2075del (p.Gln685_Pro692del) n.2636_2659del c.1104_1127del (p.Gln369_Pro376del) c.594_617del (p.Gln199_Pro206del) c.*1050_*1073del (n.*1050_*1073del) c.2448_2471del (p.Gln817_Pro824del) c.2430_2453del (p.Gln811_Pro818del) | gnomAD v4 |
22 | g.50720277C>A | CA515258781 | SHANK3 | c.2045C>A (p.Pro682His) n.2629C>A c.1097C>A (p.Pro366His) c.587C>A (p.Pro196His) c.*1043C>A (n.*1043C>A) c.2441C>A (p.Pro814His) c.2423C>A (p.Pro808His) | gnomAD v4 |
22 | g.50720277C= | CA2411007533 | SHANK3 | c.2045C= (p.Pro682=) n.2629C= c.1097C= (p.Pro366=) c.587C= (p.Pro196=) c.*1043C= (n.*1043C=) c.2441C= (p.Pro814=) c.2423C= (p.Pro808=) | |
22 | g.50720277C>G | CA515258783 | SHANK3 | c.2045C>G (p.Pro682Arg) n.2629C>G c.1097C>G (p.Pro366Arg) c.587C>G (p.Pro196Arg) c.*1043C>G (n.*1043C>G) c.2441C>G (p.Pro814Arg) c.2423C>G (p.Pro808Arg) | gnomAD v4 |
22 | g.50720277C>T | CA515258782 | SHANK3 | c.2045C>T (p.Pro682Leu) n.2629C>T c.1097C>T (p.Pro366Leu) c.587C>T (p.Pro196Leu) c.*1043C>T (n.*1043C>T) c.2441C>T (p.Pro814Leu) c.2423C>T (p.Pro808Leu) | dbSNP gnomAD v2 |
22 | g.50720278C>A | CA515258784 | SHANK3 | c.2046C>A (p.Pro682=) n.2630C>A c.1098C>A (p.Pro366=) c.588C>A (p.Pro196=) c.*1044C>A (n.*1044C>A) c.2442C>A (p.Pro814=) c.2424C>A (p.Pro808=) | gnomAD v4 |
22 | g.50720278C= | CA2411007534 | SHANK3 | c.2046C= (p.Pro682=) n.2630C= c.1098C= (p.Pro366=) c.588C= (p.Pro196=) c.*1044C= (n.*1044C=) c.2442C= (p.Pro814=) c.2424C= (p.Pro808=) | |
22 | g.50720278C>G | CA515258786 | SHANK3 | c.2046C>G (p.Pro682=) n.2630C>G c.1098C>G (p.Pro366=) c.588C>G (p.Pro196=) c.*1044C>G (n.*1044C>G) c.2442C>G (p.Pro814=) c.2424C>G (p.Pro808=) | dbSNP gnomAD v4 |
22 | g.50720278C>T | CA515258787 | SHANK3 | c.2046C>T (p.Pro682=) n.2630C>T c.1098C>T (p.Pro366=) c.588C>T (p.Pro196=) c.*1044C>T (n.*1044C>T) c.2442C>T (p.Pro814=) c.2424C>T (p.Pro808=) | gnomAD v4 |
22 | g.50720279C>A | CA515258788 | SHANK3 | c.2047C>A (p.Pro683Thr) n.2631C>A c.1099C>A (p.Pro367Thr) c.589C>A (p.Pro197Thr) c.*1045C>A (n.*1045C>A) c.2443C>A (p.Pro815Thr) c.2425C>A (p.Pro809Thr) | gnomAD v4 |
22 | g.50720279C>G | CA515258789 | SHANK3 | c.2047C>G (p.Pro683Ala) n.2631C>G c.1099C>G (p.Pro367Ala) c.589C>G (p.Pro197Ala) c.*1045C>G (n.*1045C>G) c.2443C>G (p.Pro815Ala) c.2425C>G (p.Pro809Ala) | |
22 | g.50720279C>T | CA515258790 | SHANK3 | c.2047C>T (p.Pro683Ser) n.2631C>T c.1099C>T (p.Pro367Ser) c.589C>T (p.Pro197Ser) c.*1045C>T (n.*1045C>T) c.2443C>T (p.Pro815Ser) c.2425C>T (p.Pro809Ser) | gnomAD v4 |
22 | g.50720280C>A | CA515258791 | SHANK3 | c.2048C>A (p.Pro683Gln) n.2632C>A c.1100C>A (p.Pro367Gln) c.590C>A (p.Pro197Gln) c.*1046C>A (n.*1046C>A) c.2444C>A (p.Pro815Gln) c.2426C>A (p.Pro809Gln) | gnomAD v4 |
22 | g.50720280C>G | CA515258792 | SHANK3 | c.2048C>G (p.Pro683Arg) n.2632C>G c.1100C>G (p.Pro367Arg) c.590C>G (p.Pro197Arg) c.*1046C>G (n.*1046C>G) c.2444C>G (p.Pro815Arg) c.2426C>G (p.Pro809Arg) | |
22 | g.50720280C>T | CA515258793 | SHANK3 | c.2048C>T (p.Pro683Leu) n.2632C>T c.1100C>T (p.Pro367Leu) c.590C>T (p.Pro197Leu) c.*1046C>T (n.*1046C>T) c.2444C>T (p.Pro815Leu) c.2426C>T (p.Pro809Leu) | gnomAD v4 |
22 | g.50720281del | CA2497028888 | SHANK3 | c.2049del (p.Pro684ArgfsTer?) n.2633del c.1101del (p.Pro368ArgfsTer?) c.591del (p.Pro198ArgfsTer?) c.*1047del (n.*1047del) c.2445del (p.Pro816ArgfsTer?) c.2427del (p.Pro810ArgfsTer?) | dbSNP |
22 | g.50720281G>A | CA515258794 | SHANK3 | c.2049G>A (p.Pro683=) n.2633G>A c.1101G>A (p.Pro367=) c.591G>A (p.Pro197=) c.*1047G>A (n.*1047G>A) c.2445G>A (p.Pro815=) c.2427G>A (p.Pro809=) | dbSNP gnomAD v4 |
22 | g.50720281G>C | CA515258795 | SHANK3 | c.2049G>C (p.Pro683=) n.2633G>C c.1101G>C (p.Pro367=) c.591G>C (p.Pro197=) c.*1047G>C (n.*1047G>C) c.2445G>C (p.Pro815=) c.2427G>C (p.Pro809=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720281G= | CA2411007535 | SHANK3 | c.2049G= (p.Pro683=) n.2633G= c.1101G= (p.Pro367=) c.591G= (p.Pro197=) c.*1047G= (n.*1047G=) c.2445G= (p.Pro815=) c.2427G= (p.Pro809=) | |
22 | g.50720281G>T | CA515258796 | SHANK3 | c.2049G>T (p.Pro683=) n.2633G>T c.1101G>T (p.Pro367=) c.591G>T (p.Pro197=) c.*1047G>T (n.*1047G>T) c.2445G>T (p.Pro815=) c.2427G>T (p.Pro809=) | gnomAD v4 |
22 | g.50720281_50720293del | CA2738228243 | SHANK3 | c.2049_2061del (p.Pro684ArgfsTer?) n.2633_2645del c.1101_1113del (p.Pro368ArgfsTer?) c.591_603del (p.Pro198ArgfsTer?) c.*1047_*1059del (n.*1047_*1059del) c.2445_2457del (p.Pro816ArgfsTer?) c.2427_2439del (p.Pro810ArgfsTer?) | dbSNP |
22 | g.50720281_50720296del | CA2738228200 | SHANK3 | c.2049_2064del (p.Pro684LeufsTer?) n.2633_2648del c.1101_1116del (p.Pro368LeufsTer?) c.591_606del (p.Pro198LeufsTer?) c.*1047_*1062del (n.*1047_*1062del) c.2445_2460del (p.Pro816LeufsTer?) c.2427_2442del (p.Pro810LeufsTer?) | dbSNP |
22 | g.50720282C>A | CA515258799 | SHANK3 | c.2050C>A (p.Pro684Thr) n.2634C>A c.1102C>A (p.Pro368Thr) c.592C>A (p.Pro198Thr) c.*1048C>A (n.*1048C>A) c.2446C>A (p.Pro816Thr) c.2428C>A (p.Pro810Thr) | gnomAD v4 |
22 | g.50720282C>G | CA515258798 | SHANK3 | c.2050C>G (p.Pro684Ala) n.2634C>G c.1102C>G (p.Pro368Ala) c.592C>G (p.Pro198Ala) c.*1048C>G (n.*1048C>G) c.2446C>G (p.Pro816Ala) c.2428C>G (p.Pro810Ala) | |
22 | g.50720282C>T | CA515258797 | SHANK3 | c.2050C>T (p.Pro684Ser) n.2634C>T c.1102C>T (p.Pro368Ser) c.592C>T (p.Pro198Ser) c.*1048C>T (n.*1048C>T) c.2446C>T (p.Pro816Ser) c.2428C>T (p.Pro810Ser) | gnomAD v4 |
22 | g.50720283C>A | CA515258801 | SHANK3 | c.2051C>A (p.Pro684Gln) n.2635C>A c.1103C>A (p.Pro368Gln) c.593C>A (p.Pro198Gln) c.*1049C>A (n.*1049C>A) c.2447C>A (p.Pro816Gln) c.2429C>A (p.Pro810Gln) | gnomAD v4 |
22 | g.50720283C>G | CA515258802 | SHANK3 | c.2051C>G (p.Pro684Arg) n.2635C>G c.1103C>G (p.Pro368Arg) c.593C>G (p.Pro198Arg) c.*1049C>G (n.*1049C>G) c.2447C>G (p.Pro816Arg) c.2429C>G (p.Pro810Arg) | |
22 | g.50720283C>T | CA515258803 | SHANK3 | c.2051C>T (p.Pro684Leu) n.2635C>T c.1103C>T (p.Pro368Leu) c.593C>T (p.Pro198Leu) c.*1049C>T (n.*1049C>T) c.2447C>T (p.Pro816Leu) c.2429C>T (p.Pro810Leu) | gnomAD v4 |
22 | g.50720284_50720300del | CA2497028889 | SHANK3 | c.2052_2068del (p.Gln685ProfsTer?) n.2636_2652del c.1104_1120del (p.Gln369ProfsTer?) c.594_610del (p.Gln199ProfsTer?) c.*1050_*1066del (n.*1050_*1066del) c.2448_2464del (p.Gln817ProfsTer?) c.2430_2446del (p.Gln811ProfsTer?) | |
22 | g.50720284G>A | CA515258804 | SHANK3 | c.2052G>A (p.Pro684=) n.2636G>A c.1104G>A (p.Pro368=) c.594G>A (p.Pro198=) c.*1050G>A (n.*1050G>A) c.2448G>A (p.Pro816=) c.2430G>A (p.Pro810=) | gnomAD v4 COSMIC |
22 | g.50720284G>C | CA515258805 | SHANK3 | c.2052G>C (p.Pro684=) n.2636G>C c.1104G>C (p.Pro368=) c.594G>C (p.Pro198=) c.*1050G>C (n.*1050G>C) c.2448G>C (p.Pro816=) c.2430G>C (p.Pro810=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720284G= | CA2411007536 | SHANK3 | c.2052G= (p.Pro684=) n.2636G= c.1104G= (p.Pro368=) c.594G= (p.Pro198=) c.*1050G= (n.*1050G=) c.2448G= (p.Pro816=) c.2430G= (p.Pro810=) | |
22 | g.50720284G>T | CA515258806 | SHANK3 | c.2052G>T (p.Pro684=) n.2636G>T c.1104G>T (p.Pro368=) c.594G>T (p.Pro198=) c.*1050G>T (n.*1050G>T) c.2448G>T (p.Pro816=) c.2430G>T (p.Pro810=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720284_50720288del | CA2497028972 | SHANK3 | c.2052_2056del (p.Gln685ArgfsTer?) n.2636_2640del c.1104_1108del (p.Gln369ArgfsTer?) c.594_598del (p.Gln199ArgfsTer?) c.*1050_*1054del (n.*1050_*1054del) c.2448_2452del (p.Gln817ArgfsTer?) c.2430_2434del (p.Gln811ArgfsTer?) | dbSNP |
22 | g.50720284_50720293del | CA2573129698 | SHANK3 | c.2052_2061del (p.Gln685ArgfsTer?) n.2636_2645del c.1104_1113del (p.Gln369ArgfsTer?) c.594_603del (p.Gln199ArgfsTer?) c.*1050_*1059del (n.*1050_*1059del) c.2448_2457del (p.Gln817ArgfsTer?) c.2430_2439del (p.Gln811ArgfsTer?) | dbSNP |
22 | g.50720284_50720299del | CA2738228275 | SHANK3 | c.2052_2067del (p.Gln685ProfsTer?) n.2636_2651del c.1104_1119del (p.Gln369ProfsTer?) c.594_609del (p.Gln199ProfsTer?) c.*1050_*1065del (n.*1050_*1065del) c.2448_2463del (p.Gln817ProfsTer?) c.2430_2445del (p.Gln811ProfsTer?) | dbSNP |
22 | g.50720285C>A | CA515258807 | SHANK3 | c.2053C>A (p.Gln685Lys) n.2637C>A c.1105C>A (p.Gln369Lys) c.595C>A (p.Gln199Lys) c.*1051C>A (n.*1051C>A) c.2449C>A (p.Gln817Lys) c.2431C>A (p.Gln811Lys) | gnomAD v4 |
22 | g.50720285C>G | CA515258808 | SHANK3 | c.2053C>G (p.Gln685Glu) n.2637C>G c.1105C>G (p.Gln369Glu) c.595C>G (p.Gln199Glu) c.*1051C>G (n.*1051C>G) c.2449C>G (p.Gln817Glu) c.2431C>G (p.Gln811Glu) | gnomAD v4 |
22 | g.50720285C>T | CA515258809 | SHANK3 | c.2053C>T (p.Gln685Ter) n.2637C>T c.1105C>T (p.Gln369Ter) c.595C>T (p.Gln199Ter) c.*1051C>T (n.*1051C>T) c.2449C>T (p.Gln817Ter) c.2431C>T (p.Gln811Ter) | gnomAD v4 |
22 | g.50720286A= | CA2411007537 | SHANK3 | c.2054A= (p.Gln685=) n.2638A= c.1106A= (p.Gln369=) c.596A= (p.Gln199=) c.*1052A= (n.*1052A=) c.2450A= (p.Gln817=) c.2432A= (p.Gln811=) | |
22 | g.50720286A>C | CA16609106 | SHANK3 | c.2054A>C (p.Gln685Pro) n.2638A>C c.1106A>C (p.Gln369Pro) c.596A>C (p.Gln199Pro) c.*1052A>C (n.*1052A>C) c.2450A>C (p.Gln817Pro) c.2432A>C (p.Gln811Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720286A>G | CA515258811 | SHANK3 | c.2054A>G (p.Gln685Arg) n.2638A>G c.1106A>G (p.Gln369Arg) c.596A>G (p.Gln199Arg) c.*1052A>G (n.*1052A>G) c.2450A>G (p.Gln817Arg) c.2432A>G (p.Gln811Arg) | gnomAD v4 |
22 | g.50720286A>T | CA515258812 | SHANK3 | c.2054A>T (p.Gln685Leu) n.2638A>T c.1106A>T (p.Gln369Leu) c.596A>T (p.Gln199Leu) c.*1052A>T (n.*1052A>T) c.2450A>T (p.Gln817Leu) c.2432A>T (p.Gln811Leu) | |
22 | g.50720286_50720288del | CA2261233019 | SHANK3 | c.2054_2056del (p.Gln685_Thr686delinsPro) n.2638_2640del c.1106_1108del (p.Gln369_Thr370delinsPro) c.596_598del (p.Gln199_Thr200delinsPro) c.*1052_*1054del (n.*1052_*1054del) c.2450_2452del (p.Gln817_Thr818delinsPro) c.2432_2434del (p.Gln811_Thr812delinsPro) | dbSNP |
22 | g.50720287_50720288del | CA1139771599 | SHANK3 | c.2055_2056del (p.Gln685HisfsTer?) n.2639_2640del c.1107_1108del (p.Gln369HisfsTer?) c.597_598del (p.Gln199HisfsTer?) c.*1053_*1054del (n.*1053_*1054del) c.2451_2452del (p.Gln817HisfsTer?) c.2433_2434del (p.Gln811HisfsTer?) | |
22 | g.50720287G>A | CA10325922 | SHANK3 | c.2055G>A (p.Gln685=) n.2639G>A c.1107G>A (p.Gln369=) c.597G>A (p.Gln199=) c.*1053G>A (n.*1053G>A) c.2451G>A (p.Gln817=) c.2433G>A (p.Gln811=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720287G>C | CA515258814 | SHANK3 | c.2055G>C (p.Gln685His) n.2639G>C c.1107G>C (p.Gln369His) c.597G>C (p.Gln199His) c.*1053G>C (n.*1053G>C) c.2451G>C (p.Gln817His) c.2433G>C (p.Gln811His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720287G= | CA2411007538 | SHANK3 | c.2055G= (p.Gln685=) n.2639G= c.1107G= (p.Gln369=) c.597G= (p.Gln199=) c.*1053G= (n.*1053G=) c.2451G= (p.Gln817=) c.2433G= (p.Gln811=) | |
22 | g.50720287G>T | CA515258813 | SHANK3 | c.2055G>T (p.Gln685His) n.2639G>T c.1107G>T (p.Gln369His) c.597G>T (p.Gln199His) c.*1053G>T (n.*1053G>T) c.2451G>T (p.Gln817His) c.2433G>T (p.Gln811His) | gnomAD v4 |
22 | g.50720288A>C | CA515258815 | SHANK3 | c.2056A>C (p.Thr686Pro) n.2640A>C c.1108A>C (p.Thr370Pro) c.598A>C (p.Thr200Pro) c.*1054A>C (n.*1054A>C) c.2452A>C (p.Thr818Pro) c.2434A>C (p.Thr812Pro) | |
22 | g.50720288A>G | CA515258819 | SHANK3 | c.2056A>G (p.Thr686Ala) n.2640A>G c.1108A>G (p.Thr370Ala) c.598A>G (p.Thr200Ala) c.*1054A>G (n.*1054A>G) c.2452A>G (p.Thr818Ala) c.2434A>G (p.Thr812Ala) | gnomAD v4 |
22 | g.50720288A>T | CA515258818 | SHANK3 | c.2056A>T (p.Thr686Ser) n.2640A>T c.1108A>T (p.Thr370Ser) c.598A>T (p.Thr200Ser) c.*1054A>T (n.*1054A>T) c.2452A>T (p.Thr818Ser) c.2434A>T (p.Thr812Ser) | |
22 | g.50720289C>A | CA515258820 | SHANK3 | c.2057C>A (p.Thr686Asn) n.2641C>A c.1109C>A (p.Thr370Asn) c.599C>A (p.Thr200Asn) c.*1055C>A (n.*1055C>A) c.2453C>A (p.Thr818Asn) c.2435C>A (p.Thr812Asn) | dbSNP gnomAD v4 |
22 | g.50720289C= | CA2411007539 | SHANK3 | c.2057C= (p.Thr686=) n.2641C= c.1109C= (p.Thr370=) c.599C= (p.Thr200=) c.*1055C= (n.*1055C=) c.2453C= (p.Thr818=) c.2435C= (p.Thr812=) | |
22 | g.50720289C>G | CA515258821 | SHANK3 | c.2057C>G (p.Thr686Ser) n.2641C>G c.1109C>G (p.Thr370Ser) c.599C>G (p.Thr200Ser) c.*1055C>G (n.*1055C>G) c.2453C>G (p.Thr818Ser) c.2435C>G (p.Thr812Ser) | gnomAD v4 |
22 | g.50720289C>T | CA515258822 | SHANK3 | c.2057C>T (p.Thr686Ile) n.2641C>T c.1109C>T (p.Thr370Ile) c.599C>T (p.Thr200Ile) c.*1055C>T (n.*1055C>T) c.2453C>T (p.Thr818Ile) c.2435C>T (p.Thr812Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720296_50720313dup | CA2657582830 | SHANK3 | c.2064_2081dup (p.Pro694_Tyr695insProProProProAlaPro) n.2648_2665dup c.1116_1133dup (p.Pro378_Tyr379insProProProProAlaPro) c.606_623dup (p.Pro208_Tyr209insProProProProAlaPro) c.*1062_*1079dup (n.*1062_*1079dup) c.2460_2477dup (p.Pro826_Tyr827insProProProProAlaPro) c.2442_2459dup (p.Pro820_Tyr821insProProProProAlaPro) | gnomAD v4 |
22 | g.50720296_50720313del | CA2657582827 | SHANK3 | c.2064_2081del (p.Pro689_Pro694del) n.2648_2665del c.1116_1133del (p.Pro373_Pro378del) c.606_623del (p.Pro203_Pro208del) c.*1062_*1079del (n.*1062_*1079del) c.2460_2477del (p.Pro821_Pro826del) c.2442_2459del (p.Pro815_Pro820del) | gnomAD v4 |
22 | g.50720290C>A | CA515258823 | SHANK3 | c.2058C>A (p.Thr686=) n.2642C>A c.1110C>A (p.Thr370=) c.600C>A (p.Thr200=) c.*1056C>A (n.*1056C>A) c.2454C>A (p.Thr818=) c.2436C>A (p.Thr812=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720290C= | CA2411007540 | SHANK3 | c.2058C= (p.Thr686=) n.2642C= c.1110C= (p.Thr370=) c.600C= (p.Thr200=) c.*1056C= (n.*1056C=) c.2454C= (p.Thr818=) c.2436C= (p.Thr812=) | |
22 | g.50720290C>G | CA515258825 | SHANK3 | c.2058C>G (p.Thr686=) n.2642C>G c.1110C>G (p.Thr370=) c.600C>G (p.Thr200=) c.*1056C>G (n.*1056C>G) c.2454C>G (p.Thr818=) c.2436C>G (p.Thr812=) | |
22 | g.50720290C>T | CA325578035 | SHANK3 | c.2058C>T (p.Thr686=) n.2642C>T c.1110C>T (p.Thr370=) c.600C>T (p.Thr200=) c.*1056C>T (n.*1056C>T) c.2454C>T (p.Thr818=) c.2436C>T (p.Thr812=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720291G>A | CA515258826 | SHANK3 | c.2059G>A (p.Ala687Thr) n.2643G>A c.1111G>A (p.Ala371Thr) c.601G>A (p.Ala201Thr) c.*1057G>A (n.*1057G>A) c.2455G>A (p.Ala819Thr) c.2437G>A (p.Ala813Thr) | gnomAD v4 |
22 | g.50720291G>C | CA515258827 | SHANK3 | c.2059G>C (p.Ala687Pro) n.2643G>C c.1111G>C (p.Ala371Pro) c.601G>C (p.Ala201Pro) c.*1057G>C (n.*1057G>C) c.2455G>C (p.Ala819Pro) c.2437G>C (p.Ala813Pro) | dbSNP gnomAD v4 |
22 | g.50720291G>T | CA515258829 | SHANK3 | c.2059G>T (p.Ala687Ser) n.2643G>T c.1111G>T (p.Ala371Ser) c.601G>T (p.Ala201Ser) c.*1057G>T (n.*1057G>T) c.2455G>T (p.Ala819Ser) c.2437G>T (p.Ala813Ser) | |
22 | g.50720291_50720293del | CA2738228406 | SHANK3 | c.2059_2061del (p.Ala687del) n.2643_2645del c.1111_1113del (p.Ala371del) c.601_603del (p.Ala201del) c.*1057_*1059del (n.*1057_*1059del) c.2455_2457del (p.Ala819del) c.2437_2439del (p.Ala813del) | dbSNP |
22 | g.50720292C>A | CA515258830 | SHANK3 | c.2060C>A (p.Ala687Glu) n.2644C>A c.1112C>A (p.Ala371Glu) c.602C>A (p.Ala201Glu) c.*1058C>A (n.*1058C>A) c.2456C>A (p.Ala819Glu) c.2438C>A (p.Ala813Glu) | gnomAD v4 |
22 | g.50720292C= | CA2411007541 | SHANK3 | c.2060C= (p.Ala687=) n.2644C= c.1112C= (p.Ala371=) c.602C= (p.Ala201=) c.*1058C= (n.*1058C=) c.2456C= (p.Ala819=) c.2438C= (p.Ala813=) | |
22 | g.50720292C>G | CA515258831 | SHANK3 | c.2060C>G (p.Ala687Gly) n.2644C>G c.1112C>G (p.Ala371Gly) c.602C>G (p.Ala201Gly) c.*1058C>G (n.*1058C>G) c.2456C>G (p.Ala819Gly) c.2438C>G (p.Ala813Gly) | gnomAD v4 |
22 | g.50720292C>T | CA515258832 | SHANK3 | c.2060C>T (p.Ala687Val) n.2644C>T c.1112C>T (p.Ala371Val) c.602C>T (p.Ala201Val) c.*1058C>T (n.*1058C>T) c.2456C>T (p.Ala819Val) c.2438C>T (p.Ala813Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720299_50720355del | CA2657582845 | SHANK3 | c.2067_2123del (p.Pro690_Pro708del) n.2651_2707del c.1119_1175del (p.Pro374_Pro392del) c.609_665del (p.Pro204_Pro222del) c.*1065_*1121del (n.*1065_*1121del) c.2463_2519del (p.Pro822_Pro840del) c.2445_2501del (p.Pro816_Pro834del) | gnomAD v4 |
22 | g.50720293G>A | CA515258835 | SHANK3 | c.2061G>A (p.Ala687=) n.2645G>A c.1113G>A (p.Ala371=) c.603G>A (p.Ala201=) c.*1059G>A (n.*1059G>A) c.2457G>A (p.Ala819=) c.2439G>A (p.Ala813=) | dbSNP gnomAD v4 |
22 | g.50720293G>C | CA515258833 | SHANK3 | c.2061G>C (p.Ala687=) n.2645G>C c.1113G>C (p.Ala371=) c.603G>C (p.Ala201=) c.*1059G>C (n.*1059G>C) c.2457G>C (p.Ala819=) c.2439G>C (p.Ala813=) | ClinVar dbSNP |
22 | g.50720293G= | CA2411007542 | SHANK3 | c.2061G= (p.Ala687=) n.2645G= c.1113G= (p.Ala371=) c.603G= (p.Ala201=) c.*1059G= (n.*1059G=) c.2457G= (p.Ala819=) c.2439G= (p.Ala813=) | |
22 | g.50720293G>T | CA515258834 | SHANK3 | c.2061G>T (p.Ala687=) n.2645G>T c.1113G>T (p.Ala371=) c.603G>T (p.Ala201=) c.*1059G>T (n.*1059G>T) c.2457G>T (p.Ala819=) c.2439G>T (p.Ala813=) | gnomAD v4 |
22 | g.50720294C>A | CA515258836 | SHANK3 | c.2062C>A (p.Pro688Thr) n.2646C>A c.1114C>A (p.Pro372Thr) c.604C>A (p.Pro202Thr) c.*1060C>A (n.*1060C>A) c.2458C>A (p.Pro820Thr) c.2440C>A (p.Pro814Thr) | gnomAD v4 |
22 | g.50720294C>G | CA515258837 | SHANK3 | c.2062C>G (p.Pro688Ala) n.2646C>G c.1114C>G (p.Pro372Ala) c.604C>G (p.Pro202Ala) c.*1060C>G (n.*1060C>G) c.2458C>G (p.Pro820Ala) c.2440C>G (p.Pro814Ala) | |
22 | g.50720294C>T | CA515258838 | SHANK3 | c.2062C>T (p.Pro688Ser) n.2646C>T c.1114C>T (p.Pro372Ser) c.604C>T (p.Pro202Ser) c.*1060C>T (n.*1060C>T) c.2458C>T (p.Pro820Ser) c.2440C>T (p.Pro814Ser) | gnomAD v4 |
22 | g.50720295C>A | CA515258839 | SHANK3 | c.2063C>A (p.Pro688Gln) n.2647C>A c.1115C>A (p.Pro372Gln) c.605C>A (p.Pro202Gln) c.*1061C>A (n.*1061C>A) c.2459C>A (p.Pro820Gln) c.2441C>A (p.Pro814Gln) | gnomAD v4 |
22 | g.50720295C= | CA2411007543 | SHANK3 | c.2063C= (p.Pro688=) n.2647C= c.1115C= (p.Pro372=) c.605C= (p.Pro202=) c.*1061C= (n.*1061C=) c.2459C= (p.Pro820=) c.2441C= (p.Pro814=) | |
22 | g.50720295C>G | CA515258840 | SHANK3 | c.2063C>G (p.Pro688Arg) n.2647C>G c.1115C>G (p.Pro372Arg) c.605C>G (p.Pro202Arg) c.*1061C>G (n.*1061C>G) c.2459C>G (p.Pro820Arg) c.2441C>G (p.Pro814Arg) | |
22 | g.50720295C>T | CA325578041 | SHANK3 | c.2063C>T (p.Pro688Leu) n.2647C>T c.1115C>T (p.Pro372Leu) c.605C>T (p.Pro202Leu) c.*1061C>T (n.*1061C>T) c.2459C>T (p.Pro820Leu) c.2441C>T (p.Pro814Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720296G>A | CA515258841 | SHANK3 | c.2064G>A (p.Pro688=) n.2648G>A c.1116G>A (p.Pro372=) c.606G>A (p.Pro202=) c.*1062G>A (n.*1062G>A) c.2460G>A (p.Pro820=) c.2442G>A (p.Pro814=) | dbSNP gnomAD v4 |
22 | g.50720296G>C | CA515258842 | SHANK3 | c.2064G>C (p.Pro688=) n.2648G>C c.1116G>C (p.Pro372=) c.606G>C (p.Pro202=) c.*1062G>C (n.*1062G>C) c.2460G>C (p.Pro820=) c.2442G>C (p.Pro814=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720296G= | CA2411007544 | SHANK3 | c.2064G= (p.Pro688=) n.2648G= c.1116G= (p.Pro372=) c.606G= (p.Pro202=) c.*1062G= (n.*1062G=) c.2460G= (p.Pro820=) c.2442G= (p.Pro814=) | |
22 | g.50720296G>T | CA515258843 | SHANK3 | c.2064G>T (p.Pro688=) n.2648G>T c.1116G>T (p.Pro372=) c.606G>T (p.Pro202=) c.*1062G>T (n.*1062G>T) c.2460G>T (p.Pro820=) c.2442G>T (p.Pro814=) | gnomAD v4 |
22 | g.50720297C>A | CA515258844 | SHANK3 | c.2065C>A (p.Pro689Thr) n.2649C>A c.1117C>A (p.Pro373Thr) c.607C>A (p.Pro203Thr) c.*1063C>A (n.*1063C>A) c.2461C>A (p.Pro821Thr) c.2443C>A (p.Pro815Thr) | dbSNP gnomAD v4 |
22 | g.50720297C>G | CA515258845 | SHANK3 | c.2065C>G (p.Pro689Ala) n.2649C>G c.1117C>G (p.Pro373Ala) c.607C>G (p.Pro203Ala) c.*1063C>G (n.*1063C>G) c.2461C>G (p.Pro821Ala) c.2443C>G (p.Pro815Ala) | |
22 | g.50720297C>T | CA515258846 | SHANK3 | c.2065C>T (p.Pro689Ser) n.2649C>T c.1117C>T (p.Pro373Ser) c.607C>T (p.Pro203Ser) c.*1063C>T (n.*1063C>T) c.2461C>T (p.Pro821Ser) c.2443C>T (p.Pro815Ser) | dbSNP gnomAD v4 |
22 | g.50720298C>A | CA515258850 | SHANK3 | c.2066C>A (p.Pro689His) n.2650C>A c.1118C>A (p.Pro373His) c.608C>A (p.Pro203His) c.*1064C>A (n.*1064C>A) c.2462C>A (p.Pro821His) c.2444C>A (p.Pro815His) | gnomAD v4 |
22 | g.50720298C>G | CA515258849 | SHANK3 | c.2066C>G (p.Pro689Arg) n.2650C>G c.1118C>G (p.Pro373Arg) c.608C>G (p.Pro203Arg) c.*1064C>G (n.*1064C>G) c.2462C>G (p.Pro821Arg) c.2444C>G (p.Pro815Arg) | gnomAD v4 |
22 | g.50720298C>T | CA515258848 | SHANK3 | c.2066C>T (p.Pro689Leu) n.2650C>T c.1118C>T (p.Pro373Leu) c.608C>T (p.Pro203Leu) c.*1064C>T (n.*1064C>T) c.2462C>T (p.Pro821Leu) c.2444C>T (p.Pro815Leu) | gnomAD v4 |
22 | g.50720299T>A | CA515258853 | SHANK3 | c.2067T>A (p.Pro689=) n.2651T>A c.1119T>A (p.Pro373=) c.609T>A (p.Pro203=) c.*1065T>A (n.*1065T>A) c.2463T>A (p.Pro821=) c.2445T>A (p.Pro815=) | |
22 | g.50720299T>C | CA515258851 | SHANK3 | c.2067T>C (p.Pro689=) n.2651T>C c.1119T>C (p.Pro373=) c.609T>C (p.Pro203=) c.*1065T>C (n.*1065T>C) c.2463T>C (p.Pro821=) c.2445T>C (p.Pro815=) | dbSNP gnomAD v4 |
22 | g.50720299T>G | CA515258852 | SHANK3 | c.2067T>G (p.Pro689=) n.2651T>G c.1119T>G (p.Pro373=) c.609T>G (p.Pro203=) c.*1065T>G (n.*1065T>G) c.2463T>G (p.Pro821=) c.2445T>G (p.Pro815=) | gnomAD v4 |
22 | g.50720299T= | CA2411007546 | SHANK3 | c.2067T= (p.Pro689=) n.2651T= c.1119T= (p.Pro373=) c.609T= (p.Pro203=) c.*1065T= (n.*1065T=) c.2463T= (p.Pro821=) c.2445T= (p.Pro815=) | |
22 | g.50720299_50720300delinsTC | CA2411007545 | SHANK3 | c.2067_2068delinsTC (p.Pro689=) n.2651_2652delinsTC c.1119_1120delinsTC (p.Pro373=) c.609_610delinsTC (p.Pro203=) c.*1065_*1066delinsTC (n.*1065_*1066delinsTC) c.2463_2464delinsTC (p.Pro821=) c.2445_2446delinsTC (p.Pro815=) | |
22 | g.50720300C>A | CA515258854 | SHANK3 | c.2068C>A (p.Pro690Thr) n.2652C>A c.1120C>A (p.Pro374Thr) c.610C>A (p.Pro204Thr) c.*1066C>A (n.*1066C>A) c.2464C>A (p.Pro822Thr) c.2446C>A (p.Pro816Thr) | gnomAD v4 |
22 | g.50720300C= | CA2411007547 | SHANK3 | c.2068C= (p.Pro690=) n.2652C= c.1120C= (p.Pro374=) c.610C= (p.Pro204=) c.*1066C= (n.*1066C=) c.2464C= (p.Pro822=) c.2446C= (p.Pro816=) | |
22 | g.50720300C>G | CA515258855 | SHANK3 | c.2068C>G (p.Pro690Ala) n.2652C>G c.1120C>G (p.Pro374Ala) c.610C>G (p.Pro204Ala) c.*1066C>G (n.*1066C>G) c.2464C>G (p.Pro822Ala) c.2446C>G (p.Pro816Ala) | |
22 | g.50720300C>T | CA515258856 | SHANK3 | c.2068C>T (p.Pro690Ser) n.2652C>T c.1120C>T (p.Pro374Ser) c.610C>T (p.Pro204Ser) c.*1066C>T (n.*1066C>T) c.2464C>T (p.Pro822Ser) c.2446C>T (p.Pro816Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720304dup | CA2819315378 | SHANK3 | c.2072dup (p.Pro692AlafsTer?) n.2656dup c.1124dup (p.Pro376AlafsTer?) c.614dup (p.Pro206AlafsTer?) c.*1070dup (n.*1070dup) c.2468dup (p.Pro824AlafsTer?) c.2450dup (p.Pro818AlafsTer?) | |
22 | g.50720304del | CA640058691 | SHANK3 | c.2072del (p.Pro691ArgfsTer?) n.2656del c.1124del (p.Pro375ArgfsTer?) c.614del (p.Pro205ArgfsTer?) c.*1070del (n.*1070del) c.2468del (p.Pro823ArgfsTer?) c.2450del (p.Pro817ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720300_50720308dup | CA1026671805 | SHANK3 | c.2068_2076dup (p.Pro692_Ala693insProProPro) n.2652_2660dup c.1120_1128dup (p.Pro376_Ala377insProProPro) c.610_618dup (p.Pro206_Ala207insProProPro) c.*1066_*1074dup (n.*1066_*1074dup) c.2464_2472dup (p.Pro824_Ala825insProProPro) c.2446_2454dup (p.Pro818_Ala819insProProPro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720308_50720364del | CA1026671807 | SHANK3 | c.2076_2132del (p.Ala693_Pro711del) n.2660_2716del c.1128_1184del (p.Ala377_Pro395del) c.618_674del (p.Ala207_Pro225del) c.*1074_*1130del (n.*1074_*1130del) c.2472_2528del (p.Ala825_Pro843del) c.2454_2510del (p.Ala819_Pro837del) | gnomAD v3 gnomAD v4 |
22 | g.50720301C>A | CA515258859 | SHANK3 | c.2069C>A (p.Pro690His) n.2653C>A c.1121C>A (p.Pro374His) c.611C>A (p.Pro204His) c.*1067C>A (n.*1067C>A) c.2465C>A (p.Pro822His) c.2447C>A (p.Pro816His) | gnomAD v4 |
22 | g.50720301C>G | CA515258858 | SHANK3 | c.2069C>G (p.Pro690Arg) n.2653C>G c.1121C>G (p.Pro374Arg) c.611C>G (p.Pro204Arg) c.*1067C>G (n.*1067C>G) c.2465C>G (p.Pro822Arg) c.2447C>G (p.Pro816Arg) | gnomAD v4 |
22 | g.50720301C>T | CA515258857 | SHANK3 | c.2069C>T (p.Pro690Leu) n.2653C>T c.1121C>T (p.Pro374Leu) c.611C>T (p.Pro204Leu) c.*1067C>T (n.*1067C>T) c.2465C>T (p.Pro822Leu) c.2447C>T (p.Pro816Leu) | gnomAD v4 |
22 | g.50720302C>A | CA515258860 | SHANK3 | c.2070C>A (p.Pro690=) n.2654C>A c.1122C>A (p.Pro374=) c.612C>A (p.Pro204=) c.*1068C>A (n.*1068C>A) c.2466C>A (p.Pro822=) c.2448C>A (p.Pro816=) | dbSNP gnomAD v4 |
22 | g.50720302C= | CA2411007548 | SHANK3 | c.2070C= (p.Pro690=) n.2654C= c.1122C= (p.Pro374=) c.612C= (p.Pro204=) c.*1068C= (n.*1068C=) c.2466C= (p.Pro822=) c.2448C= (p.Pro816=) | |
22 | g.50720302C>G | CA515258861 | SHANK3 | c.2070C>G (p.Pro690=) n.2654C>G c.1122C>G (p.Pro374=) c.612C>G (p.Pro204=) c.*1068C>G (n.*1068C>G) c.2466C>G (p.Pro822=) c.2448C>G (p.Pro816=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720302C>T | CA515258862 | SHANK3 | c.2070C>T (p.Pro690=) n.2654C>T c.1122C>T (p.Pro374=) c.612C>T (p.Pro204=) c.*1068C>T (n.*1068C>T) c.2466C>T (p.Pro822=) c.2448C>T (p.Pro816=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720303C>A | CA515258863 | SHANK3 | c.2071C>A (p.Pro691Thr) n.2655C>A c.1123C>A (p.Pro375Thr) c.613C>A (p.Pro205Thr) c.*1069C>A (n.*1069C>A) c.2467C>A (p.Pro823Thr) c.2449C>A (p.Pro817Thr) | gnomAD v4 |
22 | g.50720303C>G | CA515258864 | SHANK3 | c.2071C>G (p.Pro691Ala) n.2655C>G c.1123C>G (p.Pro375Ala) c.613C>G (p.Pro205Ala) c.*1069C>G (n.*1069C>G) c.2467C>G (p.Pro823Ala) c.2449C>G (p.Pro817Ala) | |
22 | g.50720303C>T | CA515258865 | SHANK3 | c.2071C>T (p.Pro691Ser) n.2655C>T c.1123C>T (p.Pro375Ser) c.613C>T (p.Pro205Ser) c.*1069C>T (n.*1069C>T) c.2467C>T (p.Pro823Ser) c.2449C>T (p.Pro817Ser) | gnomAD v4 |
22 | g.50720304C>A | CA515258866 | SHANK3 | c.2072C>A (p.Pro691Gln) n.2656C>A c.1124C>A (p.Pro375Gln) c.614C>A (p.Pro205Gln) c.*1070C>A (n.*1070C>A) c.2468C>A (p.Pro823Gln) c.2450C>A (p.Pro817Gln) | gnomAD v4 |
22 | g.50720304C= | CA2411007549 | SHANK3 | c.2072C= (p.Pro691=) n.2656C= c.1124C= (p.Pro375=) c.614C= (p.Pro205=) c.*1070C= (n.*1070C=) c.2468C= (p.Pro823=) c.2450C= (p.Pro817=) | |
22 | g.50720304C>G | CA515258868 | SHANK3 | c.2072C>G (p.Pro691Arg) n.2656C>G c.1124C>G (p.Pro375Arg) c.614C>G (p.Pro205Arg) c.*1070C>G (n.*1070C>G) c.2468C>G (p.Pro823Arg) c.2450C>G (p.Pro817Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720304C>T | CA515258867 | SHANK3 | c.2072C>T (p.Pro691Leu) n.2656C>T c.1124C>T (p.Pro375Leu) c.614C>T (p.Pro205Leu) c.*1070C>T (n.*1070C>T) c.2468C>T (p.Pro823Leu) c.2450C>T (p.Pro817Leu) | gnomAD v4 |
22 | g.50720305G>A | CA515258869 | SHANK3 | c.2073G>A (p.Pro691=) n.2657G>A c.1125G>A (p.Pro375=) c.615G>A (p.Pro205=) c.*1071G>A (n.*1071G>A) c.2469G>A (p.Pro823=) c.2451G>A (p.Pro817=) | gnomAD v4 |
22 | g.50720305G>C | CA515258870 | SHANK3 | c.2073G>C (p.Pro691=) n.2657G>C c.1125G>C (p.Pro375=) c.615G>C (p.Pro205=) c.*1071G>C (n.*1071G>C) c.2469G>C (p.Pro823=) c.2451G>C (p.Pro817=) | ClinVar dbSNP |
22 | g.50720305G>T | CA515258871 | SHANK3 | c.2073G>T (p.Pro691=) n.2657G>T c.1125G>T (p.Pro375=) c.615G>T (p.Pro205=) c.*1071G>T (n.*1071G>T) c.2469G>T (p.Pro823=) c.2451G>T (p.Pro817=) | gnomAD v4 |
22 | g.50720306C>A | CA515258873 | SHANK3 | c.2074C>A (p.Pro692Thr) n.2658C>A c.1126C>A (p.Pro376Thr) c.616C>A (p.Pro206Thr) c.*1072C>A (n.*1072C>A) c.2470C>A (p.Pro824Thr) c.2452C>A (p.Pro818Thr) | gnomAD v4 |
22 | g.50720306C>G | CA515258875 | SHANK3 | c.2074C>G (p.Pro692Ala) n.2658C>G c.1126C>G (p.Pro376Ala) c.616C>G (p.Pro206Ala) c.*1072C>G (n.*1072C>G) c.2470C>G (p.Pro824Ala) c.2452C>G (p.Pro818Ala) | gnomAD v4 |
22 | g.50720306C>T | CA515258876 | SHANK3 | c.2074C>T (p.Pro692Ser) n.2658C>T c.1126C>T (p.Pro376Ser) c.616C>T (p.Pro206Ser) c.*1072C>T (n.*1072C>T) c.2470C>T (p.Pro824Ser) c.2452C>T (p.Pro818Ser) | gnomAD v4 |
22 | g.50720307C>A | CA515258878 | SHANK3 | c.2075C>A (p.Pro692His) n.2659C>A c.1127C>A (p.Pro376His) c.617C>A (p.Pro206His) c.*1073C>A (n.*1073C>A) c.2471C>A (p.Pro824His) c.2453C>A (p.Pro818His) | gnomAD v4 |
22 | g.50720307C= | CA2411007550 | SHANK3 | c.2075C= (p.Pro692=) n.2659C= c.1127C= (p.Pro376=) c.617C= (p.Pro206=) c.*1073C= (n.*1073C=) c.2471C= (p.Pro824=) c.2453C= (p.Pro818=) | |
22 | g.50720307C>G | CA515258879 | SHANK3 | c.2075C>G (p.Pro692Arg) n.2659C>G c.1127C>G (p.Pro376Arg) c.617C>G (p.Pro206Arg) c.*1073C>G (n.*1073C>G) c.2471C>G (p.Pro824Arg) c.2453C>G (p.Pro818Arg) | |
22 | g.50720307C>T | CA515258880 | SHANK3 | c.2075C>T (p.Pro692Leu) n.2659C>T c.1127C>T (p.Pro376Leu) c.617C>T (p.Pro206Leu) c.*1073C>T (n.*1073C>T) c.2471C>T (p.Pro824Leu) c.2453C>T (p.Pro818Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720308C>A | CA515258881 | SHANK3 | c.2076C>A (p.Pro692=) n.2660C>A c.1128C>A (p.Pro376=) c.618C>A (p.Pro206=) c.*1074C>A (n.*1074C>A) c.2472C>A (p.Pro824=) c.2454C>A (p.Pro818=) | gnomAD v4 |
22 | g.50720308C>G | CA515258882 | SHANK3 | c.2076C>G (p.Pro692=) n.2660C>G c.1128C>G (p.Pro376=) c.618C>G (p.Pro206=) c.*1074C>G (n.*1074C>G) c.2472C>G (p.Pro824=) c.2454C>G (p.Pro818=) | gnomAD v4 |
22 | g.50720308C>T | CA515258883 | SHANK3 | c.2076C>T (p.Pro692=) n.2660C>T c.1128C>T (p.Pro376=) c.618C>T (p.Pro206=) c.*1074C>T (n.*1074C>T) c.2472C>T (p.Pro824=) c.2454C>T (p.Pro818=) | gnomAD v4 |
22 | g.50720309G>A | CA515258885 | SHANK3 | c.2077G>A (p.Ala693Thr) n.2661G>A c.1129G>A (p.Ala377Thr) c.619G>A (p.Ala207Thr) c.*1075G>A (n.*1075G>A) c.2473G>A (p.Ala825Thr) c.2455G>A (p.Ala819Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720309G>C | CA515258886 | SHANK3 | c.2077G>C (p.Ala693Pro) n.2661G>C c.1129G>C (p.Ala377Pro) c.619G>C (p.Ala207Pro) c.*1075G>C (n.*1075G>C) c.2473G>C (p.Ala825Pro) c.2455G>C (p.Ala819Pro) | dbSNP gnomAD v4 |
22 | g.50720309G= | CA2411007551 | SHANK3 | c.2077G= (p.Ala693=) n.2661G= c.1129G= (p.Ala377=) c.619G= (p.Ala207=) c.*1075G= (n.*1075G=) c.2473G= (p.Ala825=) c.2455G= (p.Ala819=) | |
22 | g.50720309G>T | CA515258884 | SHANK3 | c.2077G>T (p.Ala693Ser) n.2661G>T c.1129G>T (p.Ala377Ser) c.619G>T (p.Ala207Ser) c.*1075G>T (n.*1075G>T) c.2473G>T (p.Ala825Ser) c.2455G>T (p.Ala819Ser) | |
22 | g.50720310C>A | CA515258887 | SHANK3 | c.2078C>A (p.Ala693Glu) n.2662C>A c.1130C>A (p.Ala377Glu) c.620C>A (p.Ala207Glu) c.*1076C>A (n.*1076C>A) c.2474C>A (p.Ala825Glu) c.2456C>A (p.Ala819Glu) | gnomAD v4 |
22 | g.50720310C>G | CA515258888 | SHANK3 | c.2078C>G (p.Ala693Gly) n.2662C>G c.1130C>G (p.Ala377Gly) c.620C>G (p.Ala207Gly) c.*1076C>G (n.*1076C>G) c.2474C>G (p.Ala825Gly) c.2456C>G (p.Ala819Gly) | |
22 | g.50720310C>T | CA515258889 | SHANK3 | c.2078C>T (p.Ala693Val) n.2662C>T c.1130C>T (p.Ala377Val) c.620C>T (p.Ala207Val) c.*1076C>T (n.*1076C>T) c.2474C>T (p.Ala825Val) c.2456C>T (p.Ala819Val) | gnomAD v4 |
22 | g.50720311G>A | CA325578045 | SHANK3 | c.2079G>A (p.Ala693=) n.2663G>A c.1131G>A (p.Ala377=) c.621G>A (p.Ala207=) c.*1077G>A (n.*1077G>A) c.2475G>A (p.Ala825=) c.2457G>A (p.Ala819=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720311G>C | CA515258891 | SHANK3 | c.2079G>C (p.Ala693=) n.2663G>C c.1131G>C (p.Ala377=) c.621G>C (p.Ala207=) c.*1077G>C (n.*1077G>C) c.2475G>C (p.Ala825=) c.2457G>C (p.Ala819=) | dbSNP |
22 | g.50720311G= | CA2411007552 | SHANK3 | c.2079G= (p.Ala693=) n.2663G= c.1131G= (p.Ala377=) c.621G= (p.Ala207=) c.*1077G= (n.*1077G=) c.2475G= (p.Ala825=) c.2457G= (p.Ala819=) | |
22 | g.50720311G>T | CA515258892 | SHANK3 | c.2079G>T (p.Ala693=) n.2663G>T c.1131G>T (p.Ala377=) c.621G>T (p.Ala207=) c.*1077G>T (n.*1077G>T) c.2475G>T (p.Ala825=) c.2457G>T (p.Ala819=) | gnomAD v4 |
22 | g.50720312C>A | CA515258895 | SHANK3 | c.2080C>A (p.Pro694Thr) n.2664C>A c.1132C>A (p.Pro378Thr) c.622C>A (p.Pro208Thr) c.*1078C>A (n.*1078C>A) c.2476C>A (p.Pro826Thr) c.2458C>A (p.Pro820Thr) | gnomAD v4 |
22 | g.50720312C>G | CA515258894 | SHANK3 | c.2080C>G (p.Pro694Ala) n.2664C>G c.1132C>G (p.Pro378Ala) c.622C>G (p.Pro208Ala) c.*1078C>G (n.*1078C>G) c.2476C>G (p.Pro826Ala) c.2458C>G (p.Pro820Ala) | gnomAD v3 gnomAD v4 |
22 | g.50720312C>T | CA515258893 | SHANK3 | c.2080C>T (p.Pro694Ser) n.2664C>T c.1132C>T (p.Pro378Ser) c.622C>T (p.Pro208Ser) c.*1078C>T (n.*1078C>T) c.2476C>T (p.Pro826Ser) c.2458C>T (p.Pro820Ser) | gnomAD v4 |
22 | g.50720314del | CA2577768678 | SHANK3 | c.2082del (p.Tyr695ThrfsTer?) n.2666del c.1134del (p.Tyr379ThrfsTer?) c.624del (p.Tyr209ThrfsTer?) c.*1080del (n.*1080del) c.2478del (p.Tyr827ThrfsTer?) c.2460del (p.Tyr821ThrfsTer?) | |
22 | g.50720313C>A | CA515258896 | SHANK3 | c.2081C>A (p.Pro694His) n.2665C>A c.1133C>A (p.Pro378His) c.623C>A (p.Pro208His) c.*1079C>A (n.*1079C>A) c.2477C>A (p.Pro826His) c.2459C>A (p.Pro820His) | |
22 | g.50720313C= | CA2411007553 | SHANK3 | c.2081C= (p.Pro694=) n.2665C= c.1133C= (p.Pro378=) c.623C= (p.Pro208=) c.*1079C= (n.*1079C=) c.2477C= (p.Pro826=) c.2459C= (p.Pro820=) | |
22 | g.50720313C>G | CA515258897 | SHANK3 | c.2081C>G (p.Pro694Arg) n.2665C>G c.1133C>G (p.Pro378Arg) c.623C>G (p.Pro208Arg) c.*1079C>G (n.*1079C>G) c.2477C>G (p.Pro826Arg) c.2459C>G (p.Pro820Arg) | |
22 | g.50720313C>T | CA515258898 | SHANK3 | c.2081C>T (p.Pro694Leu) n.2665C>T c.1133C>T (p.Pro378Leu) c.623C>T (p.Pro208Leu) c.*1079C>T (n.*1079C>T) c.2477C>T (p.Pro826Leu) c.2459C>T (p.Pro820Leu) | dbSNP gnomAD v4 |
22 | g.50720314C>A | CA515258899 | SHANK3 | c.2082C>A (p.Pro694=) n.2666C>A c.1134C>A (p.Pro378=) c.624C>A (p.Pro208=) c.*1080C>A (n.*1080C>A) c.2478C>A (p.Pro826=) c.2460C>A (p.Pro820=) | gnomAD v4 |
22 | g.50720314C>G | CA515258900 | SHANK3 | c.2082C>G (p.Pro694=) n.2666C>G c.1134C>G (p.Pro378=) c.624C>G (p.Pro208=) c.*1080C>G (n.*1080C>G) c.2478C>G (p.Pro826=) c.2460C>G (p.Pro820=) | dbSNP |
22 | g.50720314C>T | CA515258901 | SHANK3 | c.2082C>T (p.Pro694=) n.2666C>T c.1134C>T (p.Pro378=) c.624C>T (p.Pro208=) c.*1080C>T (n.*1080C>T) c.2478C>T (p.Pro826=) c.2460C>T (p.Pro820=) | gnomAD v4 |
22 | g.50720315del | CA1026671823 | SHANK3 | c.2083del (p.Tyr695ThrfsTer?) n.2667del c.1135del (p.Tyr379ThrfsTer?) c.625del (p.Tyr209ThrfsTer?) c.*1081del (n.*1081del) c.2479del (p.Tyr827ThrfsTer?) c.2461del (p.Tyr821ThrfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50720315T>A | CA515258902 | SHANK3 | c.2083T>A (p.Tyr695Asn) n.2667T>A c.1135T>A (p.Tyr379Asn) c.625T>A (p.Tyr209Asn) c.*1081T>A (n.*1081T>A) c.2479T>A (p.Tyr827Asn) c.2461T>A (p.Tyr821Asn) | gnomAD v4 |
22 | g.50720315T>C | CA515258904 | SHANK3 | c.2083T>C (p.Tyr695His) n.2667T>C c.1135T>C (p.Tyr379His) c.625T>C (p.Tyr209His) c.*1081T>C (n.*1081T>C) c.2479T>C (p.Tyr827His) c.2461T>C (p.Tyr821His) | gnomAD v4 |
22 | g.50720315T>G | CA515258903 | SHANK3 | c.2083T>G (p.Tyr695Asp) n.2667T>G c.1135T>G (p.Tyr379Asp) c.625T>G (p.Tyr209Asp) c.*1081T>G (n.*1081T>G) c.2479T>G (p.Tyr827Asp) c.2461T>G (p.Tyr821Asp) | |
22 | g.50720316A>C | CA515258905 | SHANK3 | c.2084A>C (p.Tyr695Ser) n.2668A>C c.1136A>C (p.Tyr379Ser) c.626A>C (p.Tyr209Ser) c.*1082A>C (n.*1082A>C) c.2480A>C (p.Tyr827Ser) c.2462A>C (p.Tyr821Ser) | |
22 | g.50720316A>G | CA515258906 | SHANK3 | c.2084A>G (p.Tyr695Cys) n.2668A>G c.1136A>G (p.Tyr379Cys) c.626A>G (p.Tyr209Cys) c.*1082A>G (n.*1082A>G) c.2480A>G (p.Tyr827Cys) c.2462A>G (p.Tyr821Cys) | gnomAD v4 |
22 | g.50720316A>T | CA515258907 | SHANK3 | c.2084A>T (p.Tyr695Phe) n.2668A>T c.1136A>T (p.Tyr379Phe) c.626A>T (p.Tyr209Phe) c.*1082A>T (n.*1082A>T) c.2480A>T (p.Tyr827Phe) c.2462A>T (p.Tyr821Phe) | gnomAD v4 |
22 | g.50720317C>A | CA515258908 | SHANK3 | c.2085C>A (p.Tyr695Ter) n.2669C>A c.1137C>A (p.Tyr379Ter) c.627C>A (p.Tyr209Ter) c.*1083C>A (n.*1083C>A) c.2481C>A (p.Tyr827Ter) c.2463C>A (p.Tyr821Ter) | gnomAD v4 |
22 | g.50720317C>G | CA515258909 | SHANK3 | c.2085C>G (p.Tyr695Ter) n.2669C>G c.1137C>G (p.Tyr379Ter) c.627C>G (p.Tyr209Ter) c.*1083C>G (n.*1083C>G) c.2481C>G (p.Tyr827Ter) c.2463C>G (p.Tyr821Ter) | gnomAD v4 |
22 | g.50720317C>T | CA515258911 | SHANK3 | c.2085C>T (p.Tyr695=) n.2669C>T c.1137C>T (p.Tyr379=) c.627C>T (p.Tyr209=) c.*1083C>T (n.*1083C>T) c.2481C>T (p.Tyr827=) c.2463C>T (p.Tyr821=) | |
22 | g.50720318T>A | CA515258913 | SHANK3 | c.2086T>A (p.Tyr696Asn) n.2670T>A c.1138T>A (p.Tyr380Asn) c.628T>A (p.Tyr210Asn) c.*1084T>A (n.*1084T>A) c.2482T>A (p.Tyr828Asn) c.2464T>A (p.Tyr822Asn) | |
22 | g.50720318T>C | CA515258914 | SHANK3 | c.2086T>C (p.Tyr696His) n.2670T>C c.1138T>C (p.Tyr380His) c.628T>C (p.Tyr210His) c.*1084T>C (n.*1084T>C) c.2482T>C (p.Tyr828His) c.2464T>C (p.Tyr822His) | gnomAD v4 |
22 | g.50720318T>G | CA515258915 | SHANK3 | c.2086T>G (p.Tyr696Asp) n.2670T>G c.1138T>G (p.Tyr380Asp) c.628T>G (p.Tyr210Asp) c.*1084T>G (n.*1084T>G) c.2482T>G (p.Tyr828Asp) c.2464T>G (p.Tyr822Asp) | dbSNP |
22 | g.50720318T= | CA2411007554 | SHANK3 | c.2086T= (p.Tyr696=) n.2670T= c.1138T= (p.Tyr380=) c.628T= (p.Tyr210=) c.*1084T= (n.*1084T=) c.2482T= (p.Tyr828=) c.2464T= (p.Tyr822=) | |
22 | g.50720319A= | CA2411007555 | SHANK3 | c.2087A= (p.Tyr696=) n.2671A= c.1139A= (p.Tyr380=) c.629A= (p.Tyr210=) c.*1085A= (n.*1085A=) c.2483A= (p.Tyr828=) c.2465A= (p.Tyr822=) | |
22 | g.50720319A>C | CA515258917 | SHANK3 | c.2087A>C (p.Tyr696Ser) n.2671A>C c.1139A>C (p.Tyr380Ser) c.629A>C (p.Tyr210Ser) c.*1085A>C (n.*1085A>C) c.2483A>C (p.Tyr828Ser) c.2465A>C (p.Tyr822Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720319A>G | CA515258918 | SHANK3 | c.2087A>G (p.Tyr696Cys) n.2671A>G c.1139A>G (p.Tyr380Cys) c.629A>G (p.Tyr210Cys) c.*1085A>G (n.*1085A>G) c.2483A>G (p.Tyr828Cys) c.2465A>G (p.Tyr822Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720319A>T | CA515258919 | SHANK3 | c.2087A>T (p.Tyr696Phe) n.2671A>T c.1139A>T (p.Tyr380Phe) c.629A>T (p.Tyr210Phe) c.*1085A>T (n.*1085A>T) c.2483A>T (p.Tyr828Phe) c.2465A>T (p.Tyr822Phe) | gnomAD v4 |
22 | g.50720320C>A | CA515258920 | SHANK3 | c.2088C>A (p.Tyr696Ter) n.2672C>A c.1140C>A (p.Tyr380Ter) c.630C>A (p.Tyr210Ter) c.*1086C>A (n.*1086C>A) c.2484C>A (p.Tyr828Ter) c.2466C>A (p.Tyr822Ter) | gnomAD v4 |
22 | g.50720320C= | CA2411007556 | SHANK3 | c.2088C= (p.Tyr696=) n.2672C= c.1140C= (p.Tyr380=) c.630C= (p.Tyr210=) c.*1086C= (n.*1086C=) c.2484C= (p.Tyr828=) c.2466C= (p.Tyr822=) | |
22 | g.50720320C>G | CA515258921 | SHANK3 | c.2088C>G (p.Tyr696Ter) n.2672C>G c.1140C>G (p.Tyr380Ter) c.630C>G (p.Tyr210Ter) c.*1086C>G (n.*1086C>G) c.2484C>G (p.Tyr828Ter) c.2466C>G (p.Tyr822Ter) | |
22 | g.50720320C>T | CA325578052 | SHANK3 | c.2088C>T (p.Tyr696=) n.2672C>T c.1140C>T (p.Tyr380=) c.630C>T (p.Tyr210=) c.*1086C>T (n.*1086C>T) c.2484C>T (p.Tyr828=) c.2466C>T (p.Tyr822=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720321_50720323del | CA2657582925 | SHANK3 | c.2089_2091del (p.Phe697del) n.2673_2675del c.1141_1143del (p.Phe381del) c.631_633del (p.Phe211del) c.*1087_*1089del (n.*1087_*1089del) c.2485_2487del (p.Phe829del) c.2467_2469del (p.Phe823del) | gnomAD v4 |
22 | g.50720321T>A | CA515258922 | SHANK3 | c.2089T>A (p.Phe697Ile) n.2673T>A c.1141T>A (p.Phe381Ile) c.631T>A (p.Phe211Ile) c.*1087T>A (n.*1087T>A) c.2485T>A (p.Phe829Ile) c.2467T>A (p.Phe823Ile) | gnomAD v4 |
22 | g.50720321T>C | CA515258923 | SHANK3 | c.2089T>C (p.Phe697Leu) n.2673T>C c.1141T>C (p.Phe381Leu) c.631T>C (p.Phe211Leu) c.*1087T>C (n.*1087T>C) c.2485T>C (p.Phe829Leu) c.2467T>C (p.Phe823Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720321T>G | CA515258924 | SHANK3 | c.2089T>G (p.Phe697Val) n.2673T>G c.1141T>G (p.Phe381Val) c.631T>G (p.Phe211Val) c.*1087T>G (n.*1087T>G) c.2485T>G (p.Phe829Val) c.2467T>G (p.Phe823Val) | gnomAD v4 |
22 | g.50720321T= | CA2411007557 | SHANK3 | c.2089T= (p.Phe697=) n.2673T= c.1141T= (p.Phe381=) c.631T= (p.Phe211=) c.*1087T= (n.*1087T=) c.2485T= (p.Phe829=) c.2467T= (p.Phe823=) | |
22 | g.50720322T>A | CA515258925 | SHANK3 | c.2090T>A (p.Phe697Tyr) n.2674T>A c.1142T>A (p.Phe381Tyr) c.632T>A (p.Phe211Tyr) c.*1088T>A (n.*1088T>A) c.2486T>A (p.Phe829Tyr) c.2468T>A (p.Phe823Tyr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720322T>C | CA515258926 | SHANK3 | c.2090T>C (p.Phe697Ser) n.2674T>C c.1142T>C (p.Phe381Ser) c.632T>C (p.Phe211Ser) c.*1088T>C (n.*1088T>C) c.2486T>C (p.Phe829Ser) c.2468T>C (p.Phe823Ser) | |
22 | g.50720322T>G | CA515258927 | SHANK3 | c.2090T>G (p.Phe697Cys) n.2674T>G c.1142T>G (p.Phe381Cys) c.632T>G (p.Phe211Cys) c.*1088T>G (n.*1088T>G) c.2486T>G (p.Phe829Cys) c.2468T>G (p.Phe823Cys) | |
22 | g.50720322T= | CA2411007558 | SHANK3 | c.2090T= (p.Phe697=) n.2674T= c.1142T= (p.Phe381=) c.632T= (p.Phe211=) c.*1088T= (n.*1088T=) c.2486T= (p.Phe829=) c.2468T= (p.Phe823=) | |
22 | g.50720323C>A | CA515258928 | SHANK3 | c.2091C>A (p.Phe697Leu) n.2675C>A c.1143C>A (p.Phe381Leu) c.633C>A (p.Phe211Leu) c.*1089C>A (n.*1089C>A) c.2487C>A (p.Phe829Leu) c.2469C>A (p.Phe823Leu) | gnomAD v4 |
22 | g.50720323C= | CA2411007559 | SHANK3 | c.2091C= (p.Phe697=) n.2675C= c.1143C= (p.Phe381=) c.633C= (p.Phe211=) c.*1089C= (n.*1089C=) c.2487C= (p.Phe829=) c.2469C= (p.Phe823=) | |
22 | g.50720323C>G | CA515258929 | SHANK3 | c.2091C>G (p.Phe697Leu) n.2675C>G c.1143C>G (p.Phe381Leu) c.633C>G (p.Phe211Leu) c.*1089C>G (n.*1089C>G) c.2487C>G (p.Phe829Leu) c.2469C>G (p.Phe823Leu) | gnomAD v4 |
22 | g.50720323C>T | CA515258930 | SHANK3 | c.2091C>T (p.Phe697=) n.2675C>T c.1143C>T (p.Phe381=) c.633C>T (p.Phe211=) c.*1089C>T (n.*1089C>T) c.2487C>T (p.Phe829=) c.2469C>T (p.Phe823=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720324_50720326dup | CA2657582933 | SHANK3 | c.2092_2094dup (p.Asp698_Ser699insAsp) n.2676_2678dup c.1144_1146dup (p.Asp382_Ser383insAsp) c.634_636dup (p.Asp212_Ser213insAsp) c.*1090_*1092dup (n.*1090_*1092dup) c.2488_2490dup (p.Asp830_Ser831insAsp) c.2470_2472dup (p.Asp824_Ser825insAsp) | gnomAD v4 |
22 | g.50720324G>A | CA515258931 | SHANK3 | c.2092G>A (p.Asp698Asn) n.2676G>A c.1144G>A (p.Asp382Asn) c.634G>A (p.Asp212Asn) c.*1090G>A (n.*1090G>A) c.2488G>A (p.Asp830Asn) c.2470G>A (p.Asp824Asn) | gnomAD v4 |
22 | g.50720324G>C | CA515258932 | SHANK3 | c.2092G>C (p.Asp698His) n.2676G>C c.1144G>C (p.Asp382His) c.634G>C (p.Asp212His) c.*1090G>C (n.*1090G>C) c.2488G>C (p.Asp830His) c.2470G>C (p.Asp824His) | |
22 | g.50720324G>T | CA515258934 | SHANK3 | c.2092G>T (p.Asp698Tyr) n.2676G>T c.1144G>T (p.Asp382Tyr) c.634G>T (p.Asp212Tyr) c.*1090G>T (n.*1090G>T) c.2488G>T (p.Asp830Tyr) c.2470G>T (p.Asp824Tyr) | gnomAD v4 |
22 | g.50720325A= | CA2411007560 | SHANK3 | c.2093A= (p.Asp698=) n.2677A= c.1145A= (p.Asp382=) c.635A= (p.Asp212=) c.*1091A= (n.*1091A=) c.2489A= (p.Asp830=) c.2471A= (p.Asp824=) | |
22 | g.50720325A>C | CA515258937 | SHANK3 | c.2093A>C (p.Asp698Ala) n.2677A>C c.1145A>C (p.Asp382Ala) c.635A>C (p.Asp212Ala) c.*1091A>C (n.*1091A>C) c.2489A>C (p.Asp830Ala) c.2471A>C (p.Asp824Ala) | |
22 | g.50720325A>G | CA515258936 | SHANK3 | c.2093A>G (p.Asp698Gly) n.2677A>G c.1145A>G (p.Asp382Gly) c.635A>G (p.Asp212Gly) c.*1091A>G (n.*1091A>G) c.2489A>G (p.Asp830Gly) c.2471A>G (p.Asp824Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720325A>T | CA515258935 | SHANK3 | c.2093A>T (p.Asp698Val) n.2677A>T c.1145A>T (p.Asp382Val) c.635A>T (p.Asp212Val) c.*1091A>T (n.*1091A>T) c.2489A>T (p.Asp830Val) c.2471A>T (p.Asp824Val) | |
22 | g.50720326C>A | CA515258938 | SHANK3 | c.2094C>A (p.Asp698Glu) n.2678C>A c.1146C>A (p.Asp382Glu) c.636C>A (p.Asp212Glu) c.*1092C>A (n.*1092C>A) c.2490C>A (p.Asp830Glu) c.2472C>A (p.Asp824Glu) | gnomAD v4 |
22 | g.50720326C= | CA2411007561 | SHANK3 | c.2094C= (p.Asp698=) n.2678C= c.1146C= (p.Asp382=) c.636C= (p.Asp212=) c.*1092C= (n.*1092C=) c.2490C= (p.Asp830=) c.2472C= (p.Asp824=) | |
22 | g.50720326C>G | CA515258939 | SHANK3 | c.2094C>G (p.Asp698Glu) n.2678C>G c.1146C>G (p.Asp382Glu) c.636C>G (p.Asp212Glu) c.*1092C>G (n.*1092C>G) c.2490C>G (p.Asp830Glu) c.2472C>G (p.Asp824Glu) | |
22 | g.50720326C>T | CA515258940 | SHANK3 | c.2094C>T (p.Asp698=) n.2678C>T c.1146C>T (p.Asp382=) c.636C>T (p.Asp212=) c.*1092C>T (n.*1092C>T) c.2490C>T (p.Asp830=) c.2472C>T (p.Asp824=) | dbSNP gnomAD v4 |
22 | g.50720327T>A | CA515258941 | SHANK3 | c.2095T>A (p.Ser699Thr) n.2679T>A c.1147T>A (p.Ser383Thr) c.637T>A (p.Ser213Thr) c.*1093T>A (n.*1093T>A) c.2491T>A (p.Ser831Thr) c.2473T>A (p.Ser825Thr) | |
22 | g.50720327T>C | CA515258942 | SHANK3 | c.2095T>C (p.Ser699Pro) n.2679T>C c.1147T>C (p.Ser383Pro) c.637T>C (p.Ser213Pro) c.*1093T>C (n.*1093T>C) c.2491T>C (p.Ser831Pro) c.2473T>C (p.Ser825Pro) | gnomAD v4 |
22 | g.50720327T>G | CA515258943 | SHANK3 | c.2095T>G (p.Ser699Ala) n.2679T>G c.1147T>G (p.Ser383Ala) c.637T>G (p.Ser213Ala) c.*1093T>G (n.*1093T>G) c.2491T>G (p.Ser831Ala) c.2473T>G (p.Ser825Ala) | |
22 | g.50720328C>A | CA515258944 | SHANK3 | c.2096C>A (p.Ser699Ter) n.2680C>A c.1148C>A (p.Ser383Ter) c.638C>A (p.Ser213Ter) c.*1094C>A (n.*1094C>A) c.2492C>A (p.Ser831Ter) c.2474C>A (p.Ser825Ter) | gnomAD v4 |
22 | g.50720328C= | CA2411007562 | SHANK3 | c.2096C= (p.Ser699=) n.2680C= c.1148C= (p.Ser383=) c.638C= (p.Ser213=) c.*1094C= (n.*1094C=) c.2492C= (p.Ser831=) c.2474C= (p.Ser825=) | |
22 | g.50720328C>G | CA515258945 | SHANK3 | c.2096C>G (p.Ser699Trp) n.2680C>G c.1148C>G (p.Ser383Trp) c.638C>G (p.Ser213Trp) c.*1094C>G (n.*1094C>G) c.2492C>G (p.Ser831Trp) c.2474C>G (p.Ser825Trp) | |
22 | g.50720328C>T | CA515258946 | SHANK3 | c.2096C>T (p.Ser699Leu) n.2680C>T c.1148C>T (p.Ser383Leu) c.638C>T (p.Ser213Leu) c.*1094C>T (n.*1094C>T) c.2492C>T (p.Ser831Leu) c.2474C>T (p.Ser825Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720329G>A | CA515258947 | SHANK3 | c.2097G>A (p.Ser699=) n.2681G>A c.1149G>A (p.Ser383=) c.639G>A (p.Ser213=) c.*1095G>A (n.*1095G>A) c.2493G>A (p.Ser831=) c.2475G>A (p.Ser825=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720329G>C | CA515258948 | SHANK3 | c.2097G>C (p.Ser699=) n.2681G>C c.1149G>C (p.Ser383=) c.639G>C (p.Ser213=) c.*1095G>C (n.*1095G>C) c.2493G>C (p.Ser831=) c.2475G>C (p.Ser825=) | gnomAD v4 |
22 | g.50720329G= | CA2411007563 | SHANK3 | c.2097G= (p.Ser699=) n.2681G= c.1149G= (p.Ser383=) c.639G= (p.Ser213=) c.*1095G= (n.*1095G=) c.2493G= (p.Ser831=) c.2475G= (p.Ser825=) | |
22 | g.50720329G>T | CA515258949 | SHANK3 | c.2097G>T (p.Ser699=) n.2681G>T c.1149G>T (p.Ser383=) c.639G>T (p.Ser213=) c.*1095G>T (n.*1095G>T) c.2493G>T (p.Ser831=) c.2475G>T (p.Ser825=) | gnomAD v4 |
22 | g.50720332del | CA891842407 | SHANK3 | c.2100del (p.Pro701ArgfsTer?) n.2684del c.1152del (p.Pro385ArgfsTer?) c.642del (p.Pro215ArgfsTer?) c.*1098del (n.*1098del) c.2496del (p.Pro833ArgfsTer?) c.2478del (p.Pro827ArgfsTer?) | gnomAD v4 |
22 | g.50720330G>A | CA515258953 | SHANK3 | c.2098G>A (p.Gly700Arg) n.2682G>A c.1150G>A (p.Gly384Arg) c.640G>A (p.Gly214Arg) c.*1096G>A (n.*1096G>A) c.2494G>A (p.Gly832Arg) c.2476G>A (p.Gly826Arg) | gnomAD v4 |
22 | g.50720330G>C | CA515258951 | SHANK3 | c.2098G>C (p.Gly700Arg) n.2682G>C c.1150G>C (p.Gly384Arg) c.640G>C (p.Gly214Arg) c.*1096G>C (n.*1096G>C) c.2494G>C (p.Gly832Arg) c.2476G>C (p.Gly826Arg) | |
22 | g.50720330G>T | CA515258952 | SHANK3 | c.2098G>T (p.Gly700Trp) n.2682G>T c.1150G>T (p.Gly384Trp) c.640G>T (p.Gly214Trp) c.*1096G>T (n.*1096G>T) c.2494G>T (p.Gly832Trp) c.2476G>T (p.Gly826Trp) | gnomAD v4 |
22 | g.50720331G>A | CA515258954 | SHANK3 | c.2099G>A (p.Gly700Glu) n.2683G>A c.1151G>A (p.Gly384Glu) c.641G>A (p.Gly214Glu) c.*1097G>A (n.*1097G>A) c.2495G>A (p.Gly832Glu) c.2477G>A (p.Gly826Glu) | gnomAD v4 |
22 | g.50720331G>C | CA515258956 | SHANK3 | c.2099G>C (p.Gly700Ala) n.2683G>C c.1151G>C (p.Gly384Ala) c.641G>C (p.Gly214Ala) c.*1097G>C (n.*1097G>C) c.2495G>C (p.Gly832Ala) c.2477G>C (p.Gly826Ala) | |
22 | g.50720331G>T | CA515258955 | SHANK3 | c.2099G>T (p.Gly700Val) n.2683G>T c.1151G>T (p.Gly384Val) c.641G>T (p.Gly214Val) c.*1097G>T (n.*1097G>T) c.2495G>T (p.Gly832Val) c.2477G>T (p.Gly826Val) | gnomAD v4 |
22 | g.50720331_50720352delinsGGCCGCCCCCGGCCTTCTCGCC | CA2411007564 | SHANK3 | c.2099_2120delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly700=) n.2683_2704delinsGGCCGCCCCCGGCCTTCTCGCC c.1151_1172delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly384=) c.641_662delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly214=) c.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC (n.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC) c.2495_2516delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly832=) c.2477_2498delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly826=) | |
22 | g.50720332G>A | CA515258957 | SHANK3 | c.2100G>A (p.Gly700=) n.2684G>A c.1152G>A (p.Gly384=) c.642G>A (p.Gly214=) c.*1098G>A (n.*1098G>A) c.2496G>A (p.Gly832=) c.2478G>A (p.Gly826=) | gnomAD v4 |
22 | g.50720332G>C | CA515258959 | SHANK3 | c.2100G>C (p.Gly700=) n.2684G>C c.1152G>C (p.Gly384=) c.642G>C (p.Gly214=) c.*1098G>C (n.*1098G>C) c.2496G>C (p.Gly832=) c.2478G>C (p.Gly826=) | |
22 | g.50720332G= | CA2411007566 | SHANK3 | c.2100G= (p.Gly700=) n.2684G= c.1152G= (p.Gly384=) c.642G= (p.Gly214=) c.*1098G= (n.*1098G=) c.2496G= (p.Gly832=) c.2478G= (p.Gly826=) | |
22 | g.50720332G>T | CA515258958 | SHANK3 | c.2100G>T (p.Gly700=) n.2684G>T c.1152G>T (p.Gly384=) c.642G>T (p.Gly214=) c.*1098G>T (n.*1098G>T) c.2496G>T (p.Gly832=) c.2478G>T (p.Gly826=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720342_50720362dup | CA754092439 | SHANK3 | c.2110_2130dup (p.Pro710_Pro711insAlaPheSerProProProPro) n.2694_2714dup c.1162_1182dup (p.Pro394_Pro395insAlaPheSerProProProPro) c.652_672dup (p.Pro224_Pro225insAlaPheSerProProProPro) c.*1108_*1128dup (n.*1108_*1128dup) c.2506_2526dup (p.Pro842_Pro843insAlaPheSerProProProPro) c.2488_2508dup (p.Pro836_Pro837insAlaPheSerProProProPro) | dbSNP gnomAD v4 |
22 | g.50720342_50720362del | CA2411007565 | SHANK3 | c.2110_2130del (p.Ala704_Pro710del) n.2694_2714del c.1162_1182del (p.Ala388_Pro394del) c.652_672del (p.Ala218_Pro224del) c.*1108_*1128del (n.*1108_*1128del) c.2506_2526del (p.Ala836_Pro842del) c.2488_2508del (p.Ala830_Pro836del) | dbSNP gnomAD v4 |
22 | g.50720333C>A | CA515258960 | SHANK3 | c.2101C>A (p.Pro701Thr) n.2685C>A c.1153C>A (p.Pro385Thr) c.643C>A (p.Pro215Thr) c.*1099C>A (n.*1099C>A) c.2497C>A (p.Pro833Thr) c.2479C>A (p.Pro827Thr) | gnomAD v4 |
22 | g.50720333C>G | CA515258961 | SHANK3 | c.2101C>G (p.Pro701Ala) n.2685C>G c.1153C>G (p.Pro385Ala) c.643C>G (p.Pro215Ala) c.*1099C>G (n.*1099C>G) c.2497C>G (p.Pro833Ala) c.2479C>G (p.Pro827Ala) | gnomAD v4 |
22 | g.50720333C>T | CA515258962 | SHANK3 | c.2101C>T (p.Pro701Ser) n.2685C>T c.1153C>T (p.Pro385Ser) c.643C>T (p.Pro215Ser) c.*1099C>T (n.*1099C>T) c.2497C>T (p.Pro833Ser) c.2479C>T (p.Pro827Ser) | gnomAD v4 |
22 | g.50720334C>A | CA515258963 | SHANK3 | c.2102C>A (p.Pro701Gln) n.2686C>A c.1154C>A (p.Pro385Gln) c.644C>A (p.Pro215Gln) c.*1100C>A (n.*1100C>A) c.2498C>A (p.Pro833Gln) c.2480C>A (p.Pro827Gln) | gnomAD v4 |
22 | g.50720334C>G | CA515258964 | SHANK3 | c.2102C>G (p.Pro701Arg) n.2686C>G c.1154C>G (p.Pro385Arg) c.644C>G (p.Pro215Arg) c.*1100C>G (n.*1100C>G) c.2498C>G (p.Pro833Arg) c.2480C>G (p.Pro827Arg) | |
22 | g.50720334C>T | CA515258965 | SHANK3 | c.2102C>T (p.Pro701Leu) n.2686C>T c.1154C>T (p.Pro385Leu) c.644C>T (p.Pro215Leu) c.*1100C>T (n.*1100C>T) c.2498C>T (p.Pro833Leu) c.2480C>T (p.Pro827Leu) | gnomAD v4 |
22 | g.50720335del | CA891842406 | SHANK3 | c.2103del (p.Pro703ArgfsTer?) n.2687del c.1155del (p.Pro387ArgfsTer?) c.645del (p.Pro217ArgfsTer?) c.*1101del (n.*1101del) c.2499del (p.Pro835ArgfsTer?) c.2481del (p.Pro829ArgfsTer?) | gnomAD v4 |
22 | g.50720335G>A | CA515258966 | SHANK3 | c.2103G>A (p.Pro701=) n.2687G>A c.1155G>A (p.Pro385=) c.645G>A (p.Pro215=) c.*1101G>A (n.*1101G>A) c.2499G>A (p.Pro833=) c.2481G>A (p.Pro827=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720335G>C | CA515258967 | SHANK3 | c.2103G>C (p.Pro701=) n.2687G>C c.1155G>C (p.Pro385=) c.645G>C (p.Pro215=) c.*1101G>C (n.*1101G>C) c.2499G>C (p.Pro833=) c.2481G>C (p.Pro827=) | gnomAD v4 |
22 | g.50720335G= | CA2411007567 | SHANK3 | c.2103G= (p.Pro701=) n.2687G= c.1155G= (p.Pro385=) c.645G= (p.Pro215=) c.*1101G= (n.*1101G=) c.2499G= (p.Pro833=) c.2481G= (p.Pro827=) | |
22 | g.50720335G>T | CA515258968 | SHANK3 | c.2103G>T (p.Pro701=) n.2687G>T c.1155G>T (p.Pro385=) c.645G>T (p.Pro215=) c.*1101G>T (n.*1101G>T) c.2499G>T (p.Pro833=) c.2481G>T (p.Pro827=) | dbSNP gnomAD v4 |
22 | g.50720336C>A | CA515258969 | SHANK3 | c.2104C>A (p.Pro702Thr) n.2688C>A c.1156C>A (p.Pro386Thr) c.646C>A (p.Pro216Thr) c.*1102C>A (n.*1102C>A) c.2500C>A (p.Pro834Thr) c.2482C>A (p.Pro828Thr) | gnomAD v4 |
22 | g.50720336C= | CA2411007568 | SHANK3 | c.2104C= (p.Pro702=) n.2688C= c.1156C= (p.Pro386=) c.646C= (p.Pro216=) c.*1102C= (n.*1102C=) c.2500C= (p.Pro834=) c.2482C= (p.Pro828=) | |
22 | g.50720336C>G | CA515258970 | SHANK3 | c.2104C>G (p.Pro702Ala) n.2688C>G c.1156C>G (p.Pro386Ala) c.646C>G (p.Pro216Ala) c.*1102C>G (n.*1102C>G) c.2500C>G (p.Pro834Ala) c.2482C>G (p.Pro828Ala) | |
22 | g.50720336C>T | CA515258971 | SHANK3 | c.2104C>T (p.Pro702Ser) n.2688C>T c.1156C>T (p.Pro386Ser) c.646C>T (p.Pro216Ser) c.*1102C>T (n.*1102C>T) c.2500C>T (p.Pro834Ser) c.2482C>T (p.Pro828Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720340dup | CA2657582967 | SHANK3 | c.2108dup (p.Ala704GlyfsTer?) n.2692dup c.1160dup (p.Ala388GlyfsTer?) c.650dup (p.Ala218GlyfsTer?) c.*1106dup (n.*1106dup) c.2504dup (p.Ala836GlyfsTer?) c.2486dup (p.Ala830GlyfsTer?) | gnomAD v4 |
22 | g.50720340del | CA640358962 | SHANK3 | c.2108del (p.Pro703ArgfsTer?) n.2692del c.1160del (p.Pro387ArgfsTer?) c.650del (p.Pro217ArgfsTer?) c.*1106del (n.*1106del) c.2504del (p.Pro835ArgfsTer?) c.2486del (p.Pro829ArgfsTer?) | gnomAD v2 gnomAD v4 |
22 | g.50720337C>A | CA515258972 | SHANK3 | c.2105C>A (p.Pro702His) n.2689C>A c.1157C>A (p.Pro386His) c.647C>A (p.Pro216His) c.*1103C>A (n.*1103C>A) c.2501C>A (p.Pro834His) c.2483C>A (p.Pro828His) | gnomAD v4 |
22 | g.50720337C>G | CA515258974 | SHANK3 | c.2105C>G (p.Pro702Arg) n.2689C>G c.1157C>G (p.Pro386Arg) c.647C>G (p.Pro216Arg) c.*1103C>G (n.*1103C>G) c.2501C>G (p.Pro834Arg) c.2483C>G (p.Pro828Arg) | gnomAD v4 |
22 | g.50720337C>T | CA515258973 | SHANK3 | c.2105C>T (p.Pro702Leu) n.2689C>T c.1157C>T (p.Pro386Leu) c.647C>T (p.Pro216Leu) c.*1103C>T (n.*1103C>T) c.2501C>T (p.Pro834Leu) c.2483C>T (p.Pro828Leu) | gnomAD v4 |
22 | g.50720338C>A | CA515258975 | SHANK3 | c.2106C>A (p.Pro702=) n.2690C>A c.1158C>A (p.Pro386=) c.648C>A (p.Pro216=) c.*1104C>A (n.*1104C>A) c.2502C>A (p.Pro834=) c.2484C>A (p.Pro828=) | gnomAD v4 |
22 | g.50720338C>G | CA515258976 | SHANK3 | c.2106C>G (p.Pro702=) n.2690C>G c.1158C>G (p.Pro386=) c.648C>G (p.Pro216=) c.*1104C>G (n.*1104C>G) c.2502C>G (p.Pro834=) c.2484C>G (p.Pro828=) | |
22 | g.50720338C>T | CA515258977 | SHANK3 | c.2106C>T (p.Pro702=) n.2690C>T c.1158C>T (p.Pro386=) c.648C>T (p.Pro216=) c.*1104C>T (n.*1104C>T) c.2502C>T (p.Pro834=) c.2484C>T (p.Pro828=) | gnomAD v4 |
22 | g.50720339C>A | CA515258978 | SHANK3 | c.2107C>A (p.Pro703Thr) n.2691C>A c.1159C>A (p.Pro387Thr) c.649C>A (p.Pro217Thr) c.*1105C>A (n.*1105C>A) c.2503C>A (p.Pro835Thr) c.2485C>A (p.Pro829Thr) | gnomAD v4 |
22 | g.50720339C>G | CA515258979 | SHANK3 | c.2107C>G (p.Pro703Ala) n.2691C>G c.1159C>G (p.Pro387Ala) c.649C>G (p.Pro217Ala) c.*1105C>G (n.*1105C>G) c.2503C>G (p.Pro835Ala) c.2485C>G (p.Pro829Ala) | |
22 | g.50720339C>T | CA515258980 | SHANK3 | c.2107C>T (p.Pro703Ser) n.2691C>T c.1159C>T (p.Pro387Ser) c.649C>T (p.Pro217Ser) c.*1105C>T (n.*1105C>T) c.2503C>T (p.Pro835Ser) c.2485C>T (p.Pro829Ser) | gnomAD v4 |
22 | g.50720340C>A | CA515258981 | SHANK3 | c.2108C>A (p.Pro703Gln) n.2692C>A c.1160C>A (p.Pro387Gln) c.650C>A (p.Pro217Gln) c.*1106C>A (n.*1106C>A) c.2504C>A (p.Pro835Gln) c.2486C>A (p.Pro829Gln) | gnomAD v4 |
22 | g.50720340C= | CA2411007569 | SHANK3 | c.2108C= (p.Pro703=) n.2692C= c.1160C= (p.Pro387=) c.650C= (p.Pro217=) c.*1106C= (n.*1106C=) c.2504C= (p.Pro835=) c.2486C= (p.Pro829=) | |
22 | g.50720340C>G | CA515258982 | SHANK3 | c.2108C>G (p.Pro703Arg) n.2692C>G c.1160C>G (p.Pro387Arg) c.650C>G (p.Pro217Arg) c.*1106C>G (n.*1106C>G) c.2504C>G (p.Pro835Arg) c.2486C>G (p.Pro829Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720340C>T | CA515258983 | SHANK3 | c.2108C>T (p.Pro703Leu) n.2692C>T c.1160C>T (p.Pro387Leu) c.650C>T (p.Pro217Leu) c.*1106C>T (n.*1106C>T) c.2504C>T (p.Pro835Leu) c.2486C>T (p.Pro829Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720341G>A | CA515258986 | SHANK3 | c.2109G>A (p.Pro703=) n.2693G>A c.1161G>A (p.Pro387=) c.651G>A (p.Pro217=) c.*1107G>A (n.*1107G>A) c.2505G>A (p.Pro835=) c.2487G>A (p.Pro829=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720341G>C | CA515258985 | SHANK3 | c.2109G>C (p.Pro703=) n.2693G>C c.1161G>C (p.Pro387=) c.651G>C (p.Pro217=) c.*1107G>C (n.*1107G>C) c.2505G>C (p.Pro835=) c.2487G>C (p.Pro829=) | gnomAD v4 |
22 | g.50720341G= | CA2411007570 | SHANK3 | c.2109G= (p.Pro703=) n.2693G= c.1161G= (p.Pro387=) c.651G= (p.Pro217=) c.*1107G= (n.*1107G=) c.2505G= (p.Pro835=) c.2487G= (p.Pro829=) | |
22 | g.50720341G>T | CA515258984 | SHANK3 | c.2109G>T (p.Pro703=) n.2693G>T c.1161G>T (p.Pro387=) c.651G>T (p.Pro217=) c.*1107G>T (n.*1107G>T) c.2505G>T (p.Pro835=) c.2487G>T (p.Pro829=) | gnomAD v4 |
22 | g.50720342G>A | CA515258987 | SHANK3 | c.2110G>A (p.Ala704Thr) n.2694G>A c.1162G>A (p.Ala388Thr) c.652G>A (p.Ala218Thr) c.*1108G>A (n.*1108G>A) c.2506G>A (p.Ala836Thr) c.2488G>A (p.Ala830Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720342G>C | CA515258988 | SHANK3 | c.2110G>C (p.Ala704Pro) n.2694G>C c.1162G>C (p.Ala388Pro) c.652G>C (p.Ala218Pro) c.*1108G>C (n.*1108G>C) c.2506G>C (p.Ala836Pro) c.2488G>C (p.Ala830Pro) | ClinVar dbSNP gnomAD v4 |
22 | g.50720342G= | CA2411007571 | SHANK3 | c.2110G= (p.Ala704=) n.2694G= c.1162G= (p.Ala388=) c.652G= (p.Ala218=) c.*1108G= (n.*1108G=) c.2506G= (p.Ala836=) c.2488G= (p.Ala830=) | |
22 | g.50720342G>T | CA515258989 | SHANK3 | c.2110G>T (p.Ala704Ser) n.2694G>T c.1162G>T (p.Ala388Ser) c.652G>T (p.Ala218Ser) c.*1108G>T (n.*1108G>T) c.2506G>T (p.Ala836Ser) c.2488G>T (p.Ala830Ser) | gnomAD v4 |
22 | g.50720343C>A | CA515258990 | SHANK3 | c.2111C>A (p.Ala704Asp) n.2695C>A c.1163C>A (p.Ala388Asp) c.653C>A (p.Ala218Asp) c.*1109C>A (n.*1109C>A) c.2507C>A (p.Ala836Asp) c.2489C>A (p.Ala830Asp) | gnomAD v4 |
22 | g.50720343C>G | CA515258991 | SHANK3 | c.2111C>G (p.Ala704Gly) n.2695C>G c.1163C>G (p.Ala388Gly) c.653C>G (p.Ala218Gly) c.*1109C>G (n.*1109C>G) c.2507C>G (p.Ala836Gly) c.2489C>G (p.Ala830Gly) | |
22 | g.50720343C>T | CA515258992 | SHANK3 | c.2111C>T (p.Ala704Val) n.2695C>T c.1163C>T (p.Ala388Val) c.653C>T (p.Ala218Val) c.*1109C>T (n.*1109C>T) c.2507C>T (p.Ala836Val) c.2489C>T (p.Ala830Val) | gnomAD v4 |
22 | g.50720344_50720364del | CA2657582994 | SHANK3 | c.2112_2132del (p.Phe705_Pro711del) n.2696_2716del c.1164_1184del (p.Phe389_Pro395del) c.654_674del (p.Phe219_Pro225del) c.*1110_*1130del (n.*1110_*1130del) c.2508_2528del (p.Phe837_Pro843del) c.2490_2510del (p.Phe831_Pro837del) | gnomAD v4 |
22 | g.50720344C>A | CA515258993 | SHANK3 | c.2112C>A (p.Ala704=) n.2696C>A c.1164C>A (p.Ala388=) c.654C>A (p.Ala218=) c.*1110C>A (n.*1110C>A) c.2508C>A (p.Ala836=) c.2490C>A (p.Ala830=) | gnomAD v4 |
22 | g.50720344C>G | CA515258994 | SHANK3 | c.2112C>G (p.Ala704=) n.2696C>G c.1164C>G (p.Ala388=) c.654C>G (p.Ala218=) c.*1110C>G (n.*1110C>G) c.2508C>G (p.Ala836=) c.2490C>G (p.Ala830=) | |
22 | g.50720344C>T | CA515258995 | SHANK3 | c.2112C>T (p.Ala704=) n.2696C>T c.1164C>T (p.Ala388=) c.654C>T (p.Ala218=) c.*1110C>T (n.*1110C>T) c.2508C>T (p.Ala836=) c.2490C>T (p.Ala830=) | gnomAD v4 |
22 | g.50720345T>A | CA515258996 | SHANK3 | c.2113T>A (p.Phe705Ile) n.2697T>A c.1165T>A (p.Phe389Ile) c.655T>A (p.Phe219Ile) c.*1111T>A (n.*1111T>A) c.2509T>A (p.Phe837Ile) c.2491T>A (p.Phe831Ile) | gnomAD v4 |
22 | g.50720345T>C | CA515258997 | SHANK3 | c.2113T>C (p.Phe705Leu) n.2697T>C c.1165T>C (p.Phe389Leu) c.655T>C (p.Phe219Leu) c.*1111T>C (n.*1111T>C) c.2509T>C (p.Phe837Leu) c.2491T>C (p.Phe831Leu) | gnomAD v4 |
22 | g.50720345T>G | CA515258998 | SHANK3 | c.2113T>G (p.Phe705Val) n.2697T>G c.1165T>G (p.Phe389Val) c.655T>G (p.Phe219Val) c.*1111T>G (n.*1111T>G) c.2509T>G (p.Phe837Val) c.2491T>G (p.Phe831Val) | |
22 | g.50720346del | CA2657583000 | SHANK3 | c.2114del (p.Phe705SerfsTer?) n.2698del c.1166del (p.Phe389SerfsTer?) c.656del (p.Phe219SerfsTer?) c.*1112del (n.*1112del) c.2510del (p.Phe837SerfsTer?) c.2492del (p.Phe831SerfsTer?) | gnomAD v4 |
22 | g.50720345_50720346insCTG | CA2657583004 | SHANK3 | c.2113_2114insCTG (p.Phe705delinsSerVal) n.2697_2698insCTG c.1165_1166insCTG (p.Phe389delinsSerVal) c.655_656insCTG (p.Phe219delinsSerVal) c.*1111_*1112insCTG (n.*1111_*1112insCTG) c.2509_2510insCTG (p.Phe837delinsSerVal) c.2491_2492insCTG (p.Phe831delinsSerVal) | gnomAD v4 |
22 | g.50720346T>A | CA515259001 | SHANK3 | c.2114T>A (p.Phe705Tyr) n.2698T>A c.1166T>A (p.Phe389Tyr) c.656T>A (p.Phe219Tyr) c.*1112T>A (n.*1112T>A) c.2510T>A (p.Phe837Tyr) c.2492T>A (p.Phe831Tyr) | |
22 | g.50720346T>C | CA515258999 | SHANK3 | c.2114T>C (p.Phe705Ser) n.2698T>C c.1166T>C (p.Phe389Ser) c.656T>C (p.Phe219Ser) c.*1112T>C (n.*1112T>C) c.2510T>C (p.Phe837Ser) c.2492T>C (p.Phe831Ser) | gnomAD v4 |
22 | g.50720346T>G | CA515259000 | SHANK3 | c.2114T>G (p.Phe705Cys) n.2698T>G c.1166T>G (p.Phe389Cys) c.656T>G (p.Phe219Cys) c.*1112T>G (n.*1112T>G) c.2510T>G (p.Phe837Cys) c.2492T>G (p.Phe831Cys) | |
22 | g.50720347C>A | CA515259002 | SHANK3 | c.2115C>A (p.Phe705Leu) n.2699C>A c.1167C>A (p.Phe389Leu) c.657C>A (p.Phe219Leu) c.*1113C>A (n.*1113C>A) c.2511C>A (p.Phe837Leu) c.2493C>A (p.Phe831Leu) | gnomAD v4 |
22 | g.50720347C>G | CA515259003 | SHANK3 | c.2115C>G (p.Phe705Leu) n.2699C>G c.1167C>G (p.Phe389Leu) c.657C>G (p.Phe219Leu) c.*1113C>G (n.*1113C>G) c.2511C>G (p.Phe837Leu) c.2493C>G (p.Phe831Leu) | gnomAD v4 |
22 | g.50720347C>T | CA515259004 | SHANK3 | c.2115C>T (p.Phe705=) n.2699C>T c.1167C>T (p.Phe389=) c.657C>T (p.Phe219=) c.*1113C>T (n.*1113C>T) c.2511C>T (p.Phe837=) c.2493C>T (p.Phe831=) | gnomAD v4 |
22 | g.50720348T>A | CA515259005 | SHANK3 | c.2116T>A (p.Ser706Thr) n.2700T>A c.1168T>A (p.Ser390Thr) c.658T>A (p.Ser220Thr) c.*1114T>A (n.*1114T>A) c.2512T>A (p.Ser838Thr) c.2494T>A (p.Ser832Thr) | gnomAD v4 |
22 | g.50720348T>C | CA515259006 | SHANK3 | c.2116T>C (p.Ser706Pro) n.2700T>C c.1168T>C (p.Ser390Pro) c.658T>C (p.Ser220Pro) c.*1114T>C (n.*1114T>C) c.2512T>C (p.Ser838Pro) c.2494T>C (p.Ser832Pro) | gnomAD v4 |
22 | g.50720348T>G | CA515259007 | SHANK3 | c.2116T>G (p.Ser706Ala) n.2700T>G c.1168T>G (p.Ser390Ala) c.658T>G (p.Ser220Ala) c.*1114T>G (n.*1114T>G) c.2512T>G (p.Ser838Ala) c.2494T>G (p.Ser832Ala) | |
22 | g.50720349C>A | CA515259008 | SHANK3 | c.2117C>A (p.Ser706Ter) n.2701C>A c.1169C>A (p.Ser390Ter) c.659C>A (p.Ser220Ter) c.*1115C>A (n.*1115C>A) c.2513C>A (p.Ser838Ter) c.2495C>A (p.Ser832Ter) | gnomAD v4 |
22 | g.50720349C= | CA2411007572 | SHANK3 | c.2117C= (p.Ser706=) n.2701C= c.1169C= (p.Ser390=) c.659C= (p.Ser220=) c.*1115C= (n.*1115C=) c.2513C= (p.Ser838=) c.2495C= (p.Ser832=) | |
22 | g.50720349C>G | CA515259009 | SHANK3 | c.2117C>G (p.Ser706Trp) n.2701C>G c.1169C>G (p.Ser390Trp) c.659C>G (p.Ser220Trp) c.*1115C>G (n.*1115C>G) c.2513C>G (p.Ser838Trp) c.2495C>G (p.Ser832Trp) | |
22 | g.50720349C>T | CA515259010 | SHANK3 | c.2117C>T (p.Ser706Leu) n.2701C>T c.1169C>T (p.Ser390Leu) c.659C>T (p.Ser220Leu) c.*1115C>T (n.*1115C>T) c.2513C>T (p.Ser838Leu) c.2495C>T (p.Ser832Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720356_50720358dup | CA2577768679 | SHANK3 | c.2124_2126dup (p.Pro709_Pro710insPro) n.2708_2710dup c.1176_1178dup (p.Pro393_Pro394insPro) c.666_668dup (p.Pro223_Pro224insPro) c.*1122_*1124dup (n.*1122_*1124dup) c.2520_2522dup (p.Pro841_Pro842insPro) c.2502_2504dup (p.Pro835_Pro836insPro) | |
22 | g.50720356_50720358del | CA2657583013 | SHANK3 | c.2124_2126del (p.Pro709del) n.2708_2710del c.1176_1178del (p.Pro393del) c.666_668del (p.Pro223del) c.*1122_*1124del (n.*1122_*1124del) c.2520_2522del (p.Pro841del) c.2502_2504del (p.Pro835del) | gnomAD v4 |
22 | g.50720350G>A | CA515259011 | SHANK3 | c.2118G>A (p.Ser706=) n.2702G>A c.1170G>A (p.Ser390=) c.660G>A (p.Ser220=) c.*1116G>A (n.*1116G>A) c.2514G>A (p.Ser838=) c.2496G>A (p.Ser832=) | dbSNP gnomAD v4 |
22 | g.50720350G>C | CA515259012 | SHANK3 | c.2118G>C (p.Ser706=) n.2702G>C c.1170G>C (p.Ser390=) c.660G>C (p.Ser220=) c.*1116G>C (n.*1116G>C) c.2514G>C (p.Ser838=) c.2496G>C (p.Ser832=) | gnomAD v4 |
22 | g.50720350G= | CA2411007573 | SHANK3 | c.2118G= (p.Ser706=) n.2702G= c.1170G= (p.Ser390=) c.660G= (p.Ser220=) c.*1116G= (n.*1116G=) c.2514G= (p.Ser838=) c.2496G= (p.Ser832=) | |
22 | g.50720350G>T | CA515259013 | SHANK3 | c.2118G>T (p.Ser706=) n.2702G>T c.1170G>T (p.Ser390=) c.660G>T (p.Ser220=) c.*1116G>T (n.*1116G>T) c.2514G>T (p.Ser838=) c.2496G>T (p.Ser832=) | gnomAD v4 |
22 | g.50720351C>A | CA515259016 | SHANK3 | c.2119C>A (p.Pro707Thr) n.2703C>A c.1171C>A (p.Pro391Thr) c.661C>A (p.Pro221Thr) c.*1117C>A (n.*1117C>A) c.2515C>A (p.Pro839Thr) c.2497C>A (p.Pro833Thr) | gnomAD v4 |
22 | g.50720351C>G | CA515259015 | SHANK3 | c.2119C>G (p.Pro707Ala) n.2703C>G c.1171C>G (p.Pro391Ala) c.661C>G (p.Pro221Ala) c.*1117C>G (n.*1117C>G) c.2515C>G (p.Pro839Ala) c.2497C>G (p.Pro833Ala) | |
22 | g.50720351C>T | CA515259014 | SHANK3 | c.2119C>T (p.Pro707Ser) n.2703C>T c.1171C>T (p.Pro391Ser) c.661C>T (p.Pro221Ser) c.*1117C>T (n.*1117C>T) c.2515C>T (p.Pro839Ser) c.2497C>T (p.Pro833Ser) | gnomAD v4 |
22 | g.50720352C>A | CA515259019 | SHANK3 | c.2120C>A (p.Pro707Gln) n.2704C>A c.1172C>A (p.Pro391Gln) c.662C>A (p.Pro221Gln) c.*1118C>A (n.*1118C>A) c.2516C>A (p.Pro839Gln) c.2498C>A (p.Pro833Gln) | gnomAD v4 |
22 | g.50720352C>G | CA515259017 | SHANK3 | c.2120C>G (p.Pro707Arg) n.2704C>G c.1172C>G (p.Pro391Arg) c.662C>G (p.Pro221Arg) c.*1118C>G (n.*1118C>G) c.2516C>G (p.Pro839Arg) c.2498C>G (p.Pro833Arg) | |
22 | g.50720352C>T | CA515259018 | SHANK3 | c.2120C>T (p.Pro707Leu) n.2704C>T c.1172C>T (p.Pro391Leu) c.662C>T (p.Pro221Leu) c.*1118C>T (n.*1118C>T) c.2516C>T (p.Pro839Leu) c.2498C>T (p.Pro833Leu) | gnomAD v4 |
22 | g.50720353G>A | CA515259020 | SHANK3 | c.2121G>A (p.Pro707=) n.2705G>A c.1173G>A (p.Pro391=) c.663G>A (p.Pro221=) c.*1119G>A (n.*1119G>A) c.2517G>A (p.Pro839=) c.2499G>A (p.Pro833=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720353G>C | CA515259021 | SHANK3 | c.2121G>C (p.Pro707=) n.2705G>C c.1173G>C (p.Pro391=) c.663G>C (p.Pro221=) c.*1119G>C (n.*1119G>C) c.2517G>C (p.Pro839=) c.2499G>C (p.Pro833=) | gnomAD v4 |
22 | g.50720353G= | CA2411007574 | SHANK3 | c.2121G= (p.Pro707=) n.2705G= c.1173G= (p.Pro391=) c.663G= (p.Pro221=) c.*1119G= (n.*1119G=) c.2517G= (p.Pro839=) c.2499G= (p.Pro833=) | |
22 | g.50720353G>T | CA515259022 | SHANK3 | c.2121G>T (p.Pro707=) n.2705G>T c.1173G>T (p.Pro391=) c.663G>T (p.Pro221=) c.*1119G>T (n.*1119G>T) c.2517G>T (p.Pro839=) c.2499G>T (p.Pro833=) | dbSNP gnomAD v3 gnomAD v4 |